Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV?
We describe a 27-week fetus with occipitoschisis, polydactyly, campomelia, cleft palate, laryngeal dysplasia, ocular colobomata, hepatic fibrosis and intrahepatic cyst, ambiguous genitalia, cystic dysplastic kidneys, and brain malformation. This pattern of abnormalities appears unique. The differential diagnosis is discussed. The parents are first cousins, making autosomal recessive inheritance likely.
Adès
L C
LC
Department of Medical Genetics, Women's and Children's Hospital (Adelaide Children's Hospital Division), North Adelaide, South Australia.
Clapton
W K
WK
Morphett
A
A
Morris
L L
LL
Haan
E A
EA
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001842:Bone and Bones / Q000002:abnormalities; D001921:Brain / Q000002:abnormalities; D003241:Consanguinity; D003937:Diagnosis, Differential; D005313:Fetal Death / Q000473:pathology; D005835:Genitalia / Q000002:abnormalities; D006061:Gonadal Dysgenesis, 46,XY; D006801:Humans; D008297:Male; D009958:Orofaciodigital Syndromes / Q000175:diagnosis*; D007690:Polycystic Kidney Diseases; D017689:Polydactyly; D013577:Syndrome