Bilateral aplasia of the thumb, proximal radioulnar synostosis and unilateral synostosis of metacarpals 4 and 5.
We present a boy with bilateral aplasia of the thumb, bilateral proximal radioulnar synostosis and unilateral fusion of metacarpals 4 and 5. Apart from a small, asymptomatic ASD, no other abnormalities were noted.
Debeer
Ph
P
Center for Human Genetics, University of Leuven, Leuven, Belgium. philippe.debeer@med.kuleuven.ac.be
De Smet
L
L
Fryns
J P
JP
D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D008663:Metacarpus / Q000002:abnormalities*; D011884:Radius / Q000002:abnormalities*; D013580:Synostosis / Q000235:genetics*; D014457:Ulna / Q000002:abnormalities*