Syndactyly type 1 with cataracts and mental retardation.
We report a child affected by a malformation syndrome characterized by unusual facies, congenital cataracts, mental retardation, bilateral soft tissue syndactyly of the 3rd and 4th fingers and bilateral partial syndactyly of the 2nd and 3rd toes. The overall clinical picture in this patient is not similar to other cases previously reported.
Pavone
L
L
Paediatric Clinic, University of Catania, Italy.
Fiumara
A
A
Rizzo
R
R
Parano
E
E
Incorpora
G
G
D000015:Abnormalities, Multiple / Q000235:genetics*; D002386:Cataract / Q000151:congenital* / Q000235:genetics; D002648:Child; D005145:Face / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome