Are abdominal wall defects and external genitalia anomalies randomly expressed in some families?
Familial cases of isolated abdominal wall defects with variable expressivity in more than one generation have rarely been observed. We report four affected individuals within a small three-generation family with either variable non-syndromic abdominal wall defects or external genital anomalies. We discuss the possible transmission of non-syndromic abdominal wall defects. It could be hypothesized that similar developmental defects may result in anomalies like hypospadias in males or developmental anomalies of the labia minora or labia majora in females.
Wonkam
Ambroise
A
Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa. ambroise.wonkam@uct.ac.za
Extermann
Philipe
P
Birraux
Jacques
J
Fokstuen
Siv
S
D034861:Abdominal Wall / Q000002:abnormalities* / Q000000981:diagnostic imaging; D000328:Adult; D002675:Child, Preschool; D005260:Female; D020139:Gastroschisis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D020022:Genetic Predisposition to Disease; D006554:Hernia, Umbilical / Q000235:genetics* / Q000601:surgery; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D008297:Male; D010375:Pedigree; D014463:Ultrasonography; D014844:Vulva / Q000002:abnormalities*