title: A case with bilateral radio-ulnar synostosis.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Gazi University, Turkey.
authors.forename: A
authors.initials: A
authors.lastname: Koç
authors.forename: A O
authors.initials: AO
authors.lastname: Kaymak
authors.forename: K
authors.initials: K
authors.lastname: Karaer
authors.forename: M A
authors.initials: MA
authors.lastname: Ergün
authors.forename: T
authors.initials: T
authors.lastname: Aksu
authors.forename: E F
authors.initials: EF
authors.lastname: Perçin
mesh_terms: 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*