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P156: XX-agonadism with multiple congenital anomalies

✍ Scribed by H. H. N. Woo; I. Lo; H. Y. Tse; L. C. H. Tang

Book ID
112228071
Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
42 KB
Volume
22
Category
Article
ISSN
0960-7692

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## 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

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We report on a 19-week-old fetus with a 46,XX karyotype, normal female external genitalia, complete gonadal agenesis, large encephalocele, spina bifida, and omphalocele. We postulate a new syndrome. Hitherto no consistent malformation patterns have been observed in agonadism patients. True agonadism