Premium
XX‐agonadism in a fetus with multiple congenital anomalies
Author(s) -
Woo Hennie H.N.,
Lo Ivan F.M.,
Tse H.Y.,
Lam Stephen T.S.,
Tang C.H.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20554
Subject(s) - omphalocele , single umbilical artery , anatomy , agenesis , fetus , medicine , spina bifida , encephalocele , clavicle , surgery , pregnancy , biology , genetics
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.