XX-agonadism in a fetus with multiple congenital anomalies.
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.
Woo
Hennie H N
HH
Department of Obstetrics and Gynaecology, Kwong Wah Hospital, Hong Kong SAR, China.
Lo
Ivan F M
IF
Tse
H Y
HY
Lam
Stephen T S
ST
Tang
C H
CH
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D041321:Chromosomes, Human, X / Q000235:genetics / Q000473:pathology; D005260:Female; D023961:Gonadal Dysgenesis, 46,XX / Q000235:genetics* / Q000473:pathology; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012727:Sex Characteristics; D013577:Syndrome