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XX-agonadism in a fetus with multiple congenital anomalies

✍ Scribed by Woo, Hennie H.N. ;Lo, Ivan F.M. ;Tse, H.Y. ;Lam, Stephen T.S. ;Tang, C.H.

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 42 KB
Volume: 126A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20554

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✦ Synopsis

Abstract

We report on an 18‐week gestation fetus with 46,XX karyotype, gonadal agenesis, meningo‐encephalocele, spina bifida, omphalocele, webbing of right upper limb, deformed right clavicle and right sided ribs, absent interventricular septum, hypoplastic aorta, hypoplastic spleen, and single umbilical artery. This case is similar to the one previously described by Kennerknecht et al. in 1997 and may represent a unique syndrome. © 2003 Wiley‐Liss, Inc.

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