Sonographic detection of previously unsuspected vesical endometriosis in a woman with dismenorrhea

C.‐P. Chen, C P Chen, Hee Kyung Chang, H K Chang, Chin-Yin Sheu, C Y Sheu, B.-F. Chen, B F Chen, S J Chang, Suk‐Joon Chang, Weizu Wang, W Wang
Ultrasound in Obstetrics & Gynecology · 2001 · vol. 18(2) , pp. 183–184 · doi:10.1046/j.1469-0705.2001.00463-2.x · PMID:11547764 · W1959970457
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Echographic and anamnestic findings facilitated the prenatal diagnosis of Nonne-Milroy lymphedema, a condition linked to mutations in the FLT4 gene encoding VEGFR-3.

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Abstract

In prenatal diagnosis the following alternative dysmorphic syndromes must be considered: Turner, Noonan, microcephalylymphedema and jugular lymphatic obstruction.Turner syndrome was easily excluded by karyotyping.Noonan was unlikely because of the absence of the main prenatal features of this syndrome (congenital heart disease (present in 66% of patients), increased nuchal translucency, short femora, pleural effusions and renal abnormalities).The normal cranial size ruled out microcephaly-lymphedema. A jugular lymphatic obstruction sequence was excluded based on the exclusive localization of edemas on the lower limbs, and on the absence of heart and large vessel defects.Our prenatal diagnosis of Nonne-Milroy lymphedema was facilitated by combining both echographic and anamnestic findings.The gene involved in Nonne-Milroy lymphedema has been mapped to the telomeric part of chromosome 5q, in the region 5q34 -q35.It has recently been demonstrated that this region contains the FLT4 locus encoding the vascular endothelial growth factor receptor-3 (VEGFR-3), whose mutations interfere with normal vascular lymphatic function 6,7 .

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Condition tags

dysmenorrheaendometriosisbladder_endometriosis

MeSH descriptors

Dysmenorrhea Endometriosis Urinary Bladder Diseases Adult Diagnosis, Differential Dysmenorrhea Endometriosis Endometriosis Female Humans Tomography, X-Ray Computed Ultrasonography Urinary Bladder Diseases

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