Caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation: a new syndrome?
We present monozygotic twin boys of a triplet pregnancy with phalangeal abnormalities, deafness, a caudal appendage and the additional features of short stature, cryptorchidism, mental retardation and facial dysmorphism.
Lynch
S A
SA
Department of Medical Genetics, Leeds, UK.
Lee
S G
SG
Murday
V A
VA
D002648:Child; D002675:Child, Preschool; D003456:Cryptorchidism / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D004200:Diseases in Twins; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D011859:Radiography; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome; D014430:Twins, Monozygotic