Absent ulna in the Klippel-Feil syndrome: an unusual associated malformation.
A patient is reported with a severe type 2 Klippel-Feil syndrome, and absent ulna and ulnar ray. The severity of the musculo-skeletal involvement did not allow for corrective procedures. This uncommon association of skeletal malformations has not been previously reported. Since this syndrome has been described in families as a possible autosomal recessive trait, a 25% recurrence risk and the possibility of prenatal detection by fetal visualization methods should be taken into consideration.
D005260:Female; D006801:Humans; D007223:Infant; D007714:Klippel-Feil Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D014457:Ulna / Q000002:abnormalities* / Q000000981:diagnostic imaging