Double vagina with sex reversal, congenital diaphragmatic hernia, pulmonary and cardiac malformations--another case of Meacham syndrome.
We report a female infant of 42 weeks gestation with a left sided diaphragmatic hernia and a hypoplastic left heart. A true double vagina, absent uterus and abnormal male gonads were found in the presence of normal external female genitalia. Conventional G band karyotyping of skin samples revealed a normal male karyotype. The aetiology and inheritance are unknown. We believe this to be the fifth reported case of a recognizable syndrome first reported by Meacham [(1991). Am J Med Genet 41:478-481].
Killeen
Orla G
OG
National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
Kelehan
Peter
P
Reardon
William
W
D000015:Abnormalities, Multiple / Q000145:classification / Q000235:genetics / Q000473:pathology*; D012734:Disorders of Sex Development / Q000235:genetics / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics / Q000473:pathology*; D006548:Hernia, Diaphragmatic / Q000235:genetics / Q000473:pathology*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014621:Vagina / Q000002:abnormalities*