A case with bilateral radio-ulnar synostosis.
Congenital radio-ulnar synostosis may be an isolated abnormality or additional abnormalities may accompany it. It may also be found as a part of well-known syndromes. We present a case with bilateral congenital radio-ulnar synostosis, speech delay, dimple on shoulders, café au lait spot and characteristic facial appearance. The proband has a brother with similar clinical findings with the exception of congenital radio-ulnar synostosis. We discuss the possible relationship between our case and previously described syndromes with congenital radio-ulnar synostosis, and distinct phenotypic features of the presented case.
Koç
A
A
Department of Medical Genetics, Faculty of Medicine, Gazi University, Turkey.
Kaymak
A O
AO
Karaer
K
K
Ergün
M A
MA
Aksu
T
T
Perçin
E F
EF
D000015:Abnormalities, Multiple; D002648:Child; D005260:Female; D005542:Forearm / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability; D007805:Language Development Disorders; D008297:Male; D009123:Muscle Hypotonia; D011884:Radius / Q000002:abnormalities*; D035781:Siblings; D013580:Synostosis; D014457:Ulna / Q000002:abnormalities*