Uncommon Syndactyly Linked with Dandy-Walker Syndrome in a Newborn: A Case Report

Uncommon Syndactyly Linked with Dandy-Walker Syndrome in a Newborn: A Case Report | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Case Report Uncommon Syndactyly Linked with Dandy-Walker Syndrome in a Newborn: A Case Report Navid Faraji, Rasoul Goli, Reza Atharifar, Noushin Shahmirza This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-3925166/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Dandy-Walker syndrome (DWS) is a rare congenital disorder characterized by structural abnormalities in the cerebellum and fluid-filled spaces within the brain. A 38-year-old Kurdish mother presented for routine prenatal ultrasound at 17 weeks and 4 days gestation, where an anomaly in the fetus' foot and ankle was observed. Subsequent evaluations revealed unilateral clubfoot deformity, syndactyly of the toes as a new finding, hydrocephalus, cerebral atrophy, and cardiac abnormalities. The infant experienced apnea and seizure attacks after birth. Diagnostic imaging modalities, including three-dimensional ultrasound and neurogram scan, confirmed cerebellar vermis agenesis and ventricular enlargement. This case report contributes to the understanding of DWS, emphasizing the importance of comprehensive clinical evaluations and imaging studies in diagnosing and managing the condition. Further research and accumulation of similar cases are warranted to enhance knowledge and improve care for individuals with DWS. Dandy-Walker syndrome congenital disorder cerebellar abnormalities diagnostic imaging case report Figures Figure 1 Figure 2 Figure 3 Background Dandy-Walker syndrome (DWS), also known as Dandy-Walker malformation, is a rare congenital disorder affecting the development of the brain ( 1 ). It is characterized by a combination of structural abnormalities in the cerebellum and fluid-filled spaces within the brain, leading to a range of neurological and physical impairments ( 2 ). First described by Walter E. Dandy and Arthur Earl Walker in the 1920s, this syndrome is estimated to occur in approximately 1 in 25,000 live births ( 3 ). The primary feature of DWS is the presence of a malformation in the cerebellum, which is the part of the brain responsible for coordination, balance, and motor control ( 2 ). Typically, this malformation involves the partial or complete absence of the cerebellar vermis, a structure that connects the two hemispheres of the cerebellum ( 1 ). As a result, there is an enlargement of the fourth ventricle, a fluid-filled space in the brain, and an abnormal accumulation of cerebrospinal fluid (CSF) in this area ( 4 ). In addition to cerebellar abnormalities, individuals with DWS may exhibit other associated features ( 5 ). These can include hydrocephalus, a condition characterized by an excessive accumulation of CSF in the brain, as well as developmental delays, intellectual disabilities, and motor impairments ( 6 ). Some individuals may also experience seizures, muscle stiffness, and problems with coordination and balance ( 7 ). The exact cause of DWS is not fully understood, although it is believed to result from a combination of genetic and environmental factors. In some cases, it may be associated with chromosomal abnormalities or genetic mutations. However, the majority of cases occur sporadically without a clear genetic cause ( 8 ). Diagnosis of DWS is typically made prenatally through ultrasound or during infancy based on clinical symptoms and imaging studies such as magnetic resonance imaging (MRI) ( 10 ). Early detection and intervention are crucial to managing the associated complications and providing appropriate medical and supportive care. Case presentation This case study involves the examination of a male fetus who was delivered by a 38-year-old Kurdish mother at Motahari Hospital, Urmia, Iran, via a normal vaginal delivery at a gestational age of 36 weeks and 6 days. The mother, in her second pregnancy with a parity of one and no history of miscarriage, presented for a routine prenatal ultrasound at 17 weeks and 4 days gestation (based on the last menstrual period), and 17 weeks and 3 days ± 6 days (based on ultrasound). During the ultrasound examination, an anomaly was detected in the fetus' foot and ankle. Notably, the screening tests conducted at 12 weeks' gestation, including Free Beta-hCG = 0.54, PAPP-A = 0.75 MoM, and NT 1.10 MoM, all fell within the normal ranges. The mother sought further evaluation by a perinatologist, and a subsequent three-dimensional ultrasound revealed a viable fetus with normal fetal heart rate and activity within the uterine cavity. The estimated fetal age was approximately 17 weeks and 5 days, with an approximate fetal weight of 220 grams and a probable male gender. Further examination of the fetus revealed a unilateral clubfoot deformity on the left side. Subsequently, the mother was referred for additional ultrasound examination by a specialist with expertise in fetal anomalies. At 32 weeks of gestation, an ultrasound examination revealed the presence of hydrocephalus, cerebral atrophy, and a cardiac issue, which indicated conditions that exceeded the legal gestational age limit for termination. Upon newborn examination, the infant's weight was recorded as 3211 grams, height as 43 centimeters, and head circumference as 33 centimeters (Fig. 1 ; video 1). The laboratory results were as following: Biochemistry : B.U.N (Blood Urea Nitrogen): The B.U.N level is 12.9 mg/dl, which falls within the reference range for a cord blood sample (21–40 mg/dl). Creatinine: The creatinine level is 0.64 mg/dl. Reference ranges for different age groups are given, and the value falls within the range for children older than 4 years and adults. Blood Sugar: The blood sugar level is 66 mg/dl, which is marked as low (L). Serum Na (Sodium): The sodium level is 140 mmol/L, which falls within the reference range for newborns, infants, children, and adults. Serum K (Potassium): The potassium level is 4.29 mmol/L. Bilirubin (total): The total bilirubin level is 3.57 mg/dl, marked as high (H). The reference range for total bilirubin is 0.2–1.2 mg/dl. Additionally, the direct bilirubin level is 0.37 mg/dl, which falls within the normal range (0-0.4 mg/dl). 7. CRP (C-reactive protein) quantitative: The CRP level is reported as < 1, indicating a negative result. Hematology : W.B.C (White Blood Cell count): The W.B.C count is 21.4 x 1000/mm3, which is elevated compared to the reference range of 6.0–16.0 x 1000/mm3. R.B.C (Red Blood Cell count): The R.B.C count is 5.01 million/mm3, falling within the reference range for males and females. Hemoglobin (Hb): The hemoglobin level is 18.0 gm/dl for both males and females, which is within the normal range. Hct (Hematocrit): The hematocrit level is 50.7%, falling within the reference range for males and females. Platelet count: The platelet count is 180 x 1000/mm3, which is within the normal reference range. M.C.V (Mean Corpuscular Volume): The M.C.V level is 101.2 fL (femtoliters), marked as high (H). The reference range is 77–97 fL. Following birth, the infant experienced apnea followed by seizure attacks. A neurogram scan of the infant revealed hypoplasia of the inferior vermis of the cerebellum and a suspected communication between the posterior fossa and the 4th ventricle, suggestive of Dandy-Walker variant (Fig. 2 ). Furthermore, slight expansion was observed in the lateral ventricles, with the diameter of the atrium of the right ventricle measuring 14 mm and the diameter of the left ventricle measuring 16 mm. The corpus callosum appeared to be normal, and there was no evidence of intraventricular hemorrhage (IVH) or intraparenchymal hemorrhage (IPH) (Fig. 1 ). Additionally, syndactyly of the toes as a new finding compare to the previous studies was observed in the newborn (Fig. 3 ), but no other significant noticeable findings were identified during clinical examinations. A cardiac specialist diagnosed cardiac abnormalities, including mitral insufficiency, through an echocardiogram. Discussion The presented case report of a male fetus diagnosed with Dandy-Walker variant adds valuable insights to the existing body of literature on this congenital disorder. By discussing and comparing this case with previous studies, we can gain a deeper understanding of the clinical presentation, diagnostic findings, and potential implications for management and prognosis. Starting with the clinical presentation, this case report describes a 36-week and 6-day-old male fetus delivered by a 38-year-old Kurdish mother. The fetus was initially identified with an anomaly in the foot and ankle during a routine prenatal ultrasound examination at 17 weeks and 4 days gestation. Subsequent evaluations, including three-dimensional ultrasound and newborn examination, revealed additional abnormalities, such as unilateral clubfoot deformity, syndactyly of the toes, hydrocephalus, cerebral atrophy, and cardiac abnormalities including mitral insufficiency. The infant also experienced apnea and seizure attacks after birth. Comparing these findings with previous studies, it is evident that the clinical presentation of DWS can vary widely ( 2 – 7 ). While cerebellar vermis agenesis and hydrocephalus are commonly observed features, the presence of additional anomalies such as clubfoot deformity, syndactyly, and cardiac abnormalities may vary in their frequency and severity across different cases. This highlights the importance of comprehensive clinical evaluations and imaging studies to assess the full extent of the syndrome and associated anomalies. In terms of diagnostic findings, the case report describes the use of prenatal ultrasound and subsequent imaging modalities, such as three-dimensional ultrasound and neurogram scan, to characterize the structural abnormalities in the fetus. These findings align with previous studies that emphasize the role of prenatal imaging, particularly ultrasound and MRI, in diagnosing DWS. The identification of cerebellar vermis agenesis, ventricular enlargement, and associated anomalies in the presented case is consistent with the diagnostic criteria and imaging features reported in the literature. Regarding management and prognosis, the case report indicates that the identified abnormalities, including hydrocephalus and cardiac issues, exceeded the legal gestational age limit for termination. This highlights the challenges and ethical considerations associated with managing cases of DWS when significant anomalies are detected. Furthermore, the subsequent development of apnea, seizure attacks, and neurologic findings in the newborn highlights the potential neurological complications and long-term prognosis in affected individuals. When comparing this case report with previous studies, it is important to acknowledge the limitations of a single case report, such as its inherent bias and limited generalizability. However, by considering this case in the context of the existing literature, we can identify commonalities and variations in the clinical presentation, diagnostic approach, and outcomes of DWS. Conclusion In conclusion, this case report contributes valuable information to the understanding of DWS. By comparing it with previous studies, we can identify similarities and differences in the clinical presentation, diagnostic features, and potential implications for management and prognosis. Further research and accumulation of similar case reports and studies are necessary to expand our knowledge and improve the care of individuals affected by DWS. Abbreviations DWS Dandy-Walker syndrome CSF cerebrospinal fluid MRI magnetic resonance imaging IVH intraventricular hemorrhage IPH intraparenchymal hemorrhage Declarations Ethics approval and consent to participate The present study was conducted in accordance with the Declaration of Helsinki and was approved by the Ethics Review Committee of Urmia University of Medical Sciences. Consent for publication Informed consent to share pertinent case information was obtained from the patient's family. Competing interests The authors declare that they have no conflict of interest. Funding Not applicable. Author Contribution RG, RA, and NF conceptualized the analysis. RG, NF, RA, and NS collected data for the analysis. NS and RG wrote the manuscript. RG and NF critically appraised the manuscript. All authors read and approved the final manuscript. Availability of data and material The datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request. References Monteagudo A. Dandy-Walker Malformation. Am J Obstet Gynecol. 2020;223(6):B38–41. Haddadi K, Zare A, Asadian L. Dandy-Walker Syndrome: a review of new diagnosis and management in children. J Pediatr Rev. 2018;6(2):47–52. Zhang N, Qi Z, Zhang X, Zhong F, Yao H, Xu X, Liu J, Huang Y. Dandy–Walker syndrome associated with syringomyelia in an adult: a case report and literature review. J Int Med Res. 2019;47(4):1771–7. Santoro M, Coi A, Barišić I, Garne E, Addor MC, Bergman JE, Bianchi F, Boban L, Braz P, Cavero-Carbonell C, Gatt M. Epidemiology of Dandy-Walker malformation in Europe: a EUROCAT population-based registry study. Neuroepidemiology. 2019;53(3–4):169–79. Sun Y, Wang T, Zhang N, Zhang P, Li Y. Clinical features and genetic analysis of Dandy-Walker syndrome. BMC Pregnancy Childbirth. 2023;23(1):40. Rahmani R, Lotfian N, Rahmani M, Amiri M, Darafshi R. Dandy-walker syndrome: a rare case report. J Mazandaran Univ Med Sci. 2018;27(156):218–25. Tréhout M, Zhang N, Blouet M, Borha A, Dollfus S. Dandy-Walker malformation-like condition revealed by refractory schizophrenia: a case report and literature review. Neuropsychobiology. 2019;77(2):59–66. Di Nora A, Costanza G, Pizzo F, Di Mari A, Sapuppo A, Basile A, Fiumara A, Pavone P. Dandy–Walker malformation and variants: clinical features and associated anomalies in 28 affected children—a single retrospective study and a review of the literature. Acta Neurol Belgica. 2023;123(3):903–9. Segovia AP, Guerrero-Jiménez M, de Albornoz Calahorro CM, Gutierrez-Rojas L. Psychosis and Dandy-Walker syndrome: a case report and review of the literature. Gen psychiatry. 2021;34(2). Haldipur P, Bernardo S, Aldinger KA, Sivakumar T, Millman J, Sjoboen AH, Dang D, Dubocanin D, Deng M, Timms AE, Davis BD. Evidence of disrupted rhombic lip development in the pathogenesis of Dandy–Walker malformation. Acta Neuropathol. 2021;142:761–76. Additional Declarations No competing interests reported. Cite Share Download PDF Status: Posted Version 1 posted You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-3925166","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Case Report","associatedPublications":[],"authors":[{"id":272820593,"identity":"8e6c8597-2fed-4415-ac53-df9821f4caeb","order_by":0,"name":"Navid Faraji","email":"","orcid":"","institution":"Urmia University of Medical Sciences","correspondingAuthor":false,"prefix":"","firstName":"Navid","middleName":"","lastName":"Faraji","suffix":""},{"id":272820594,"identity":"e6464b3b-28f5-4e16-8b7c-f7f12fe29c29","order_by":1,"name":"Rasoul Goli","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAAwElEQVRIiWNgGAWjYFAC5oYDDAw2cC4PEVoYQVrSSNQCJA6T4Cx598bGA4x7zieu7T9jwPCjhkHGvIGAFsMzB4EOe3Y7cduNHAPGnmMMPDIHCGmZkQjUcgCkhceAgbeBgUeCkMOgWs4lbjt/xoDxLzFa5CXAWg4kbjuQY8BMlC0GPEC/JBxINt52I63gsMwxCSJsaW8+/OHDATvZbecPb3z4psbGnrAtB4BEApQDZBPUALSlgbCaUTAKRsEoGOkAAOjnQjPIOkikAAAAAElFTkSuQmCC","orcid":"","institution":"Urmia University of Medical Sciences","correspondingAuthor":true,"prefix":"","firstName":"Rasoul","middleName":"","lastName":"Goli","suffix":""},{"id":272820595,"identity":"220f0e0c-23af-42f8-9a66-fe591a5f2444","order_by":2,"name":"Reza Atharifar","email":"","orcid":"","institution":"Urmia University of Medical Sciences","correspondingAuthor":false,"prefix":"","firstName":"Reza","middleName":"","lastName":"Atharifar","suffix":""},{"id":272820596,"identity":"37eb01c9-82c0-4ee3-bcc4-848839b39fe8","order_by":3,"name":"Noushin Shahmirza","email":"","orcid":"","institution":"Urmia University of Medical Sciences","correspondingAuthor":false,"prefix":"","firstName":"Noushin","middleName":"","lastName":"Shahmirza","suffix":""}],"badges":[],"createdAt":"2024-02-03 19:59:09","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-3925166/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-3925166/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":51236622,"identity":"1aa5a8b0-dffd-4333-8aa2-f589d792fa62","added_by":"auto","created_at":"2024-02-16 16:41:51","extension":"jpeg","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":877648,"visible":true,"origin":"","legend":"\u003cp\u003eThe newborn with Dandy-Walker syndrome\u003c/p\u003e","description":"","filename":"floatimage1.jpeg","url":"https://assets-eu.researchsquare.com/files/rs-3925166/v1/d4cdb2771b28f01f3463eb1a.jpeg"},{"id":51236620,"identity":"12203bec-97a9-4454-b4b6-dc01cdab0046","added_by":"auto","created_at":"2024-02-16 16:41:51","extension":"jpeg","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":846921,"visible":true,"origin":"","legend":"\u003cp\u003eBrain CT scan\u003c/p\u003e","description":"","filename":"floatimage2.jpeg","url":"https://assets-eu.researchsquare.com/files/rs-3925166/v1/8952fccf90aea9bee731a376.jpeg"},{"id":51238409,"identity":"086a7ffe-54e8-46a1-8a79-dae9b8745e18","added_by":"auto","created_at":"2024-02-16 16:49:51","extension":"jpeg","order_by":3,"title":"Figure 3","display":"","copyAsset":false,"role":"figure","size":484638,"visible":true,"origin":"","legend":"\u003cp\u003esyndactyly in the newborn with Dandy-Walker syndrome\u003c/p\u003e","description":"","filename":"floatimage3.jpeg","url":"https://assets-eu.researchsquare.com/files/rs-3925166/v1/d975ec0e4c287005811e2094.jpeg"},{"id":55265043,"identity":"2ae5fc73-7d84-42ea-ae02-a30a16523c00","added_by":"auto","created_at":"2024-04-25 01:54:27","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":504088,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-3925166/v1/16c6385b-502a-4df5-95b3-e25012ff2d45.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"Uncommon Syndactyly Linked with Dandy-Walker Syndrome in a Newborn: A Case Report","fulltext":[{"header":"Background","content":"\u003cp\u003eDandy-Walker syndrome (DWS), also known as Dandy-Walker malformation, is a rare congenital disorder affecting the development of the brain (\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e). It is characterized by a combination of structural abnormalities in the cerebellum and fluid-filled spaces within the brain, leading to a range of neurological and physical impairments (\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e). First described by Walter E. Dandy and Arthur Earl Walker in the 1920s, this syndrome is estimated to occur in approximately 1 in 25,000 live births (\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eThe primary feature of DWS is the presence of a malformation in the cerebellum, which is the part of the brain responsible for coordination, balance, and motor control (\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e). Typically, this malformation involves the partial or complete absence of the cerebellar vermis, a structure that connects the two hemispheres of the cerebellum (\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e). As a result, there is an enlargement of the fourth ventricle, a fluid-filled space in the brain, and an abnormal accumulation of cerebrospinal fluid (CSF) in this area (\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eIn addition to cerebellar abnormalities, individuals with DWS may exhibit other associated features (\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e). These can include hydrocephalus, a condition characterized by an excessive accumulation of CSF in the brain, as well as developmental delays, intellectual disabilities, and motor impairments (\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e). Some individuals may also experience seizures, muscle stiffness, and problems with coordination and balance (\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eThe exact cause of DWS is not fully understood, although it is believed to result from a combination of genetic and environmental factors. In some cases, it may be associated with chromosomal abnormalities or genetic mutations. However, the majority of cases occur sporadically without a clear genetic cause (\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eDiagnosis of DWS is typically made prenatally through ultrasound or during infancy based on clinical symptoms and imaging studies such as magnetic resonance imaging (MRI) (\u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e). Early detection and intervention are crucial to managing the associated complications and providing appropriate medical and supportive care.\u003c/p\u003e"},{"header":"Case presentation","content":"\u003cp\u003eThis case study involves the examination of a male fetus who was delivered by a 38-year-old Kurdish mother at Motahari Hospital, Urmia, Iran, via a normal vaginal delivery at a gestational age of 36 weeks and 6 days. The mother, in her second pregnancy with a parity of one and no history of miscarriage, presented for a routine prenatal ultrasound at 17 weeks and 4 days gestation (based on the last menstrual period), and 17 weeks and 3 days\u0026thinsp;\u0026plusmn;\u0026thinsp;6 days (based on ultrasound). During the ultrasound examination, an anomaly was detected in the fetus' foot and ankle. Notably, the screening tests conducted at 12 weeks' gestation, including Free Beta-hCG\u0026thinsp;=\u0026thinsp;0.54, PAPP-A\u0026thinsp;=\u0026thinsp;0.75 MoM, and NT 1.10 MoM, all fell within the normal ranges.\u003c/p\u003e\n\u003cp\u003eThe mother sought further evaluation by a perinatologist, and a subsequent three-dimensional ultrasound revealed a viable fetus with normal fetal heart rate and activity within the uterine cavity. The estimated fetal age was approximately 17 weeks and 5 days, with an approximate fetal weight of 220 grams and a probable male gender. Further examination of the fetus revealed a unilateral clubfoot deformity on the left side. Subsequently, the mother was referred for additional ultrasound examination by a specialist with expertise in fetal anomalies.\u003c/p\u003e\n\u003cp\u003eAt 32 weeks of gestation, an ultrasound examination revealed the presence of hydrocephalus, cerebral atrophy, and a cardiac issue, which indicated conditions that exceeded the legal gestational age limit for termination. Upon newborn examination, the infant's weight was recorded as 3211 grams, height as 43 centimeters, and head circumference as 33 centimeters (Fig.\u0026nbsp;\u003cspan class=\"InternalRef\"\u003e1\u003c/span\u003e; video 1). The laboratory results were as following:\u003c/p\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eBiochemistry\u003c/strong\u003e:\u003c/p\u003e\n\u003col\u003e\n\u003cli\u003e\n\u003cp\u003eB.U.N (Blood Urea Nitrogen): The B.U.N level is 12.9 mg/dl, which falls within the reference range for a cord blood sample (21\u0026ndash;40 mg/dl).\u003c/p\u003e\n\u003c/li\u003e\n\u003cli\u003e\n\u003cp\u003eCreatinine: The creatinine level is 0.64 mg/dl. Reference ranges for different age groups are given, and the value falls within the range for children older than 4 years and adults.\u003c/p\u003e\n\u003c/li\u003e\n\u003cli\u003e\n\u003cp\u003eBlood Sugar: The blood sugar level is 66 mg/dl, which is marked as low (L).\u003c/p\u003e\n\u003c/li\u003e\n\u003cli\u003e\n\u003cp\u003eSerum Na (Sodium): The sodium level is 140 mmol/L, which falls within the reference range for newborns, infants, children, and adults.\u003c/p\u003e\n\u003c/li\u003e\n\u003cli\u003e\n\u003cp\u003eSerum K (Potassium): The potassium level is 4.29 mmol/L.\u003c/p\u003e\n\u003c/li\u003e\n\u003cli\u003e\n\u003cp\u003eBilirubin (total): The total bilirubin level is 3.57 mg/dl, marked as high (H). The reference range for total bilirubin is 0.2\u0026ndash;1.2 mg/dl. Additionally, the direct bilirubin level is 0.37 mg/dl, which falls within the normal range (0-0.4 mg/dl).\u003c/p\u003e\n\u003c/li\u003e\n\u003cli\u003e\n\u003cp\u003e7. CRP (C-reactive protein) quantitative: The CRP level is reported as \u0026lt;\u0026thinsp;1, indicating a negative result.\u003c/p\u003e\n\u003c/li\u003e\n\u003c/ol\u003e\n\u003cp\u003e\u003cstrong\u003eHematology\u003c/strong\u003e:\u003c/p\u003e\n\u003col\u003e\n\u003cli\u003e\n\u003cp\u003eW.B.C (White Blood Cell count): The W.B.C count is 21.4 x 1000/mm3, which is elevated compared to the reference range of 6.0\u0026ndash;16.0 x 1000/mm3.\u003c/p\u003e\n\u003c/li\u003e\n\u003cli\u003e\n\u003cp\u003eR.B.C (Red Blood Cell count): The R.B.C count is 5.01\u0026nbsp;million/mm3, falling within the reference range for males and females.\u003c/p\u003e\n\u003c/li\u003e\n\u003cli\u003e\n\u003cp\u003eHemoglobin (Hb): The hemoglobin level is 18.0 gm/dl for both males and females, which is within the normal range.\u003c/p\u003e\n\u003c/li\u003e\n\u003cli\u003e\n\u003cp\u003eHct (Hematocrit): The hematocrit level is 50.7%, falling within the reference range for males and females.\u003c/p\u003e\n\u003c/li\u003e\n\u003cli\u003e\n\u003cp\u003ePlatelet count: The platelet count is 180 x 1000/mm3, which is within the normal reference range.\u003c/p\u003e\n\u003c/li\u003e\n\u003cli\u003e\n\u003cp\u003eM.C.V (Mean Corpuscular Volume): The M.C.V level is 101.2 fL (femtoliters), marked as high (H). The reference range is 77\u0026ndash;97 fL.\u003c/p\u003e\n\u003c/li\u003e\n\u003c/ol\u003e\n\u003cp\u003eFollowing birth, the infant experienced apnea followed by seizure attacks. A neurogram scan of the infant revealed hypoplasia of the inferior vermis of the cerebellum and a suspected communication between the posterior fossa and the 4th ventricle, suggestive of Dandy-Walker variant (Fig.\u0026nbsp;\u003cspan class=\"InternalRef\"\u003e2\u003c/span\u003e). Furthermore, slight expansion was observed in the lateral ventricles, with the diameter of the atrium of the right ventricle measuring 14 mm and the diameter of the left ventricle measuring 16 mm. The corpus callosum appeared to be normal, and there was no evidence of intraventricular hemorrhage (IVH) or intraparenchymal hemorrhage (IPH) (Fig.\u0026nbsp;\u003cspan class=\"InternalRef\"\u003e1\u003c/span\u003e).\u003c/p\u003e\n\u003cp\u003eAdditionally, syndactyly of the toes as a new finding compare to the previous studies was observed in the newborn (Fig.\u0026nbsp;\u003cspan class=\"InternalRef\"\u003e3\u003c/span\u003e), but no other significant noticeable findings were identified during clinical examinations. A cardiac specialist diagnosed cardiac abnormalities, including mitral insufficiency, through an echocardiogram.\u003c/p\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e"},{"header":"Discussion","content":"\u003cp\u003eThe presented case report of a male fetus diagnosed with Dandy-Walker variant adds valuable insights to the existing body of literature on this congenital disorder. By discussing and comparing this case with previous studies, we can gain a deeper understanding of the clinical presentation, diagnostic findings, and potential implications for management and prognosis.\u003c/p\u003e \u003cp\u003eStarting with the clinical presentation, this case report describes a 36-week and 6-day-old male fetus delivered by a 38-year-old Kurdish mother. The fetus was initially identified with an anomaly in the foot and ankle during a routine prenatal ultrasound examination at 17 weeks and 4 days gestation. Subsequent evaluations, including three-dimensional ultrasound and newborn examination, revealed additional abnormalities, such as unilateral clubfoot deformity, syndactyly of the toes, hydrocephalus, cerebral atrophy, and cardiac abnormalities including mitral insufficiency. The infant also experienced apnea and seizure attacks after birth.\u003c/p\u003e \u003cp\u003eComparing these findings with previous studies, it is evident that the clinical presentation of DWS can vary widely (\u003cspan additionalcitationids=\"CR3 CR4 CR5 CR6\" citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e). While cerebellar vermis agenesis and hydrocephalus are commonly observed features, the presence of additional anomalies such as clubfoot deformity, syndactyly, and cardiac abnormalities may vary in their frequency and severity across different cases. This highlights the importance of comprehensive clinical evaluations and imaging studies to assess the full extent of the syndrome and associated anomalies.\u003c/p\u003e \u003cp\u003eIn terms of diagnostic findings, the case report describes the use of prenatal ultrasound and subsequent imaging modalities, such as three-dimensional ultrasound and neurogram scan, to characterize the structural abnormalities in the fetus. These findings align with previous studies that emphasize the role of prenatal imaging, particularly ultrasound and MRI, in diagnosing DWS. The identification of cerebellar vermis agenesis, ventricular enlargement, and associated anomalies in the presented case is consistent with the diagnostic criteria and imaging features reported in the literature.\u003c/p\u003e \u003cp\u003eRegarding management and prognosis, the case report indicates that the identified abnormalities, including hydrocephalus and cardiac issues, exceeded the legal gestational age limit for termination. This highlights the challenges and ethical considerations associated with managing cases of DWS when significant anomalies are detected. Furthermore, the subsequent development of apnea, seizure attacks, and neurologic findings in the newborn highlights the potential neurological complications and long-term prognosis in affected individuals.\u003c/p\u003e \u003cp\u003eWhen comparing this case report with previous studies, it is important to acknowledge the limitations of a single case report, such as its inherent bias and limited generalizability. However, by considering this case in the context of the existing literature, we can identify commonalities and variations in the clinical presentation, diagnostic approach, and outcomes of DWS.\u003c/p\u003e"},{"header":"Conclusion","content":"\u003cp\u003eIn conclusion, this case report contributes valuable information to the understanding of DWS. By comparing it with previous studies, we can identify similarities and differences in the clinical presentation, diagnostic features, and potential implications for management and prognosis. Further research and accumulation of similar case reports and studies are necessary to expand our knowledge and improve the care of individuals affected by DWS.\u003c/p\u003e"},{"header":"Abbreviations","content":"\u003cdiv class=\"DefinitionList\"\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eDWS\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eDandy-Walker syndrome\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eCSF\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003ecerebrospinal fluid\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eMRI\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003emagnetic resonance imaging\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eIVH\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eintraventricular hemorrhage\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eIPH\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eintraparenchymal hemorrhage\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003c/div\u003e"},{"header":"Declarations","content":"\u003cp\u003e \u003cstrong\u003eEthics approval and consent to participate\u003c/strong\u003e \u003cp\u003eThe present study was conducted in accordance with the Declaration of Helsinki and was approved by the Ethics Review Committee of Urmia University of Medical Sciences.\u003c/p\u003e \u003c/p\u003e \u003cp\u003e \u003cstrong\u003eConsent for publication\u003c/strong\u003e \u003cp\u003eInformed consent to share pertinent case information was obtained from the patient's family.\u003c/p\u003e \u003c/p\u003e\u003cp\u003e \u003ch2\u003eCompeting interests\u003c/h2\u003e \u003cp\u003eThe authors declare that they have no conflict of interest.\u003c/p\u003e \u003c/p\u003e\u003ch2\u003eFunding\u003c/h2\u003e \u003cp\u003eNot applicable.\u003c/p\u003e\u003ch2\u003eAuthor Contribution\u003c/h2\u003e\u003cp\u003eRG, RA, and NF conceptualized the analysis. RG, NF, RA, and NS collected data for the analysis. NS and RG wrote the manuscript. RG and NF critically appraised the manuscript. All authors read and approved the final manuscript.\u003c/p\u003e\u003ch2\u003eAvailability of data and material\u003c/h2\u003e \u003cp\u003eThe datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eMonteagudo A. Dandy-Walker Malformation. Am J Obstet Gynecol. 2020;223(6):B38\u0026ndash;41.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eHaddadi K, Zare A, Asadian L. Dandy-Walker Syndrome: a review of new diagnosis and management in children. J Pediatr Rev. 2018;6(2):47\u0026ndash;52.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eZhang N, Qi Z, Zhang X, Zhong F, Yao H, Xu X, Liu J, Huang Y. Dandy\u0026ndash;Walker syndrome associated with syringomyelia in an adult: a case report and literature review. J Int Med Res. 2019;47(4):1771\u0026ndash;7.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eSantoro M, Coi A, Barišić I, Garne E, Addor MC, Bergman JE, Bianchi F, Boban L, Braz P, Cavero-Carbonell C, Gatt M. Epidemiology of Dandy-Walker malformation in Europe: a EUROCAT population-based registry study. Neuroepidemiology. 2019;53(3\u0026ndash;4):169\u0026ndash;79.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eSun Y, Wang T, Zhang N, Zhang P, Li Y. Clinical features and genetic analysis of Dandy-Walker syndrome. BMC Pregnancy Childbirth. 2023;23(1):40.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eRahmani R, Lotfian N, Rahmani M, Amiri M, Darafshi R. Dandy-walker syndrome: a rare case report. J Mazandaran Univ Med Sci. 2018;27(156):218\u0026ndash;25.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eTr\u0026eacute;hout M, Zhang N, Blouet M, Borha A, Dollfus S. Dandy-Walker malformation-like condition revealed by refractory schizophrenia: a case report and literature review. Neuropsychobiology. 2019;77(2):59\u0026ndash;66.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eDi Nora A, Costanza G, Pizzo F, Di Mari A, Sapuppo A, Basile A, Fiumara A, Pavone P. Dandy\u0026ndash;Walker malformation and variants: clinical features and associated anomalies in 28 affected children\u0026mdash;a single retrospective study and a review of the literature. Acta Neurol Belgica. 2023;123(3):903\u0026ndash;9.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eSegovia AP, Guerrero-Jim\u0026eacute;nez M, de Albornoz Calahorro CM, Gutierrez-Rojas L. Psychosis and Dandy-Walker syndrome: a case report and review of the literature. Gen psychiatry. 2021;34(2).\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eHaldipur P, Bernardo S, Aldinger KA, Sivakumar T, Millman J, Sjoboen AH, Dang D, Dubocanin D, Deng M, Timms AE, Davis BD. Evidence of disrupted rhombic lip development in the pathogenesis of Dandy\u0026ndash;Walker malformation. Acta Neuropathol. 2021;142:761\u0026ndash;76.\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":true,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true},"keywords":"Dandy-Walker syndrome, congenital disorder, cerebellar abnormalities, diagnostic imaging, case report","lastPublishedDoi":"10.21203/rs.3.rs-3925166/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-3925166/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eDandy-Walker syndrome (DWS) is a rare congenital disorder characterized by structural abnormalities in the cerebellum and fluid-filled spaces within the brain. A 38-year-old Kurdish mother presented for routine prenatal ultrasound at 17 weeks and 4 days gestation, where an anomaly in the fetus' foot and ankle was observed. Subsequent evaluations revealed unilateral clubfoot deformity, syndactyly of the toes as a new finding, hydrocephalus, cerebral atrophy, and cardiac abnormalities. The infant experienced apnea and seizure attacks after birth. Diagnostic imaging modalities, including three-dimensional ultrasound and neurogram scan, confirmed cerebellar vermis agenesis and ventricular enlargement. This case report contributes to the understanding of DWS, emphasizing the importance of comprehensive clinical evaluations and imaging studies in diagnosing and managing the condition. Further research and accumulation of similar cases are warranted to enhance knowledge and improve care for individuals with DWS.\u003c/p\u003e","manuscriptTitle":"Uncommon Syndactyly Linked with Dandy-Walker Syndrome in a Newborn: A Case Report","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2024-02-16 16:41:46","doi":"10.21203/rs.3.rs-3925166/v1","editorialEvents":[{"type":"communityComments","content":0}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"b7c74f93-b8d8-42e2-a543-f5914bb7c55b","owner":[],"postedDate":"February 16th, 2024","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[],"tags":[],"updatedAt":"2024-04-24T00:11:53+00:00","versionOfRecord":[],"versionCreatedAt":"2024-02-16 16:41:46","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-3925166","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-3925166","identity":"rs-3925166","version":["v1"]},"buildId":"qtupq5eGEP_6zYnWcrvyt","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}