Prenatal diagnosis and postnatal outcome of severe tetra-phocomelia associated with Pierre Robin sequence in a low-resource setting: a case report from Burkina Faso

Prenatal diagnosis and postnatal outcome of severe tetra-phocomelia associated with Pierre Robin sequence in a low-resource setting: a case report from Burkina Faso | 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 Prenatal diagnosis and postnatal outcome of severe tetra-phocomelia associated with Pierre Robin sequence in a low-resource setting: a case report from Burkina Faso Jean de Dieu SANOU, Jean de la Croix MILLOGO, Alihonou Serge Éric TOGBE, and 5 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-9142156/v1 This work is licensed under a CC BY 4.0 License Status: Under Review Version 1 posted 7 You are reading this latest preprint version Abstract Background: Severe limb reduction defects are rare congenital malformations that remain poorly documented in sub-Saharan Africa. Tetra-phocomelia is one of the most severe forms and may be associated with syndromic conditions. The combination of tetra-phocomelia and Pierre Robin sequence has been described in only a handful of cases worldwide and never previously reported from Burkina Faso. Case presentation: We report the case of a 29-year-old multigravida (G3P2) with no history of teratogenic exposure whose second-trimester morphological ultrasound at 28 weeks revealed bilateral femoral agenesis and severe bilateral limb reduction defects. A 2,750 g male newborn was delivered vaginally at 37 weeks following prolonged premature rupture of membranes. Clinical examination confirmed severe tetra-phocomelia affecting all four limbs and micro-retrognathia with glossoptosis consistent with Pierre Robin sequence. Radiographic evaluation demonstrated bilateral humero-radial synostosis, complete femoral and fibular agenesis, and tibias articulating directly with the pelvis. Transfontanellar ultrasound identified an isolated cavum vergae cyst; cardiac and abdominal imaging was normal. Genetic testing was unavailable. Despite multidisciplinary supportive management, the infant died at two months of age due to refractory feeding difficulties and progressive respiratory compromise. Conclusions: This exceptionally rare case demonstrates that antenatal detection of severe skeletal dysplasias is feasible through routine second-trimester ultrasound even in resource- limited settings. It underscores the urgent need for genetic investigation capacity, multidisciplinary neonatal care pathways, and congenital anomaly surveillance systems in sub- Saharan Africa. phocomelia tetra-phocomelia Pierre Robin sequence limb reduction defect congenital anomalies prenatal diagnosis skeletal dysplasia Burkina Faso sub-Saharan Africa low-resource settings Full Text Additional Declarations No competing interests reported. Cite Share Download PDF Status: Under Review Version 1 posted Reviewers agreed at journal 01 May, 2026 Reviewers agreed at journal 01 May, 2026 Reviewers invited by journal 29 Apr, 2026 Editor assigned by journal 26 Apr, 2026 Editor invited by journal 09 Apr, 2026 Submission checks completed at journal 08 Apr, 2026 First submitted to journal 08 Apr, 2026 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-9142156","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Case Report","associatedPublications":[],"authors":[{"id":634281681,"identity":"e270d3cd-caf2-4527-8a27-f61f3dd3c67b","order_by":0,"name":"Jean de Dieu 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Series","inReviewEnabled":true,"inReviewRevisionsEnabled":true},"keywords":"phocomelia, tetra-phocomelia, Pierre Robin sequence, limb reduction defect, congenital anomalies, prenatal diagnosis, skeletal dysplasia, Burkina Faso, sub-Saharan Africa, low-resource settings","lastPublishedDoi":"10.21203/rs.3.rs-9142156/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-9142156/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003e\u003cstrong\u003eBackground:\u003c/strong\u003e Severe limb reduction defects are rare congenital malformations that remain poorly documented in sub-Saharan Africa. Tetra-phocomelia is one of the most severe forms and may be associated with syndromic conditions. The combination of tetra-phocomelia and Pierre Robin sequence has been described in only a handful of cases worldwide and never previously reported from Burkina Faso.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCase presentation:\u003c/strong\u003e We report the case of a 29-year-old multigravida (G3P2) with no history of teratogenic exposure whose second-trimester morphological ultrasound at 28 weeks revealed bilateral femoral agenesis and severe bilateral limb reduction defects. A 2,750 g male newborn was delivered vaginally at 37 weeks following prolonged premature rupture of membranes. Clinical examination confirmed severe tetra-phocomelia affecting all four limbs and micro-retrognathia with glossoptosis consistent with Pierre Robin sequence. 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