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Am J Med Genet A. 2004 Apr 1;126A(1):104-5.

XX-agonadism in a fetus with multiple congenital anomalies.

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  • 1Department of Obstetrics and Gynaecology, Kwong Wah Hospital, Hong Kong SAR, China.


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.

Copyright 2003 Wiley-Liss, Inc.

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