Craniofacial conodysplasia.
A family with dominant inheritance of a previously unreported syndrome of craniofacial dysplasia and cone-shaped physes of the hands and feet is described. Hydrocephalus and spinal cord compression at the craniocervical junction causes neurological complications and mimics cerebral palsy. Early diagnosis and treatment may prevent progression of neurological changes.
Beals
R K
RK
Division of Orthopaedics and Rehabilitation, Oregon Health Sciences University, Portland 97201-3098, USA.
Piatt
J H
JH
Zonana
J
J
D001848:Bone Diseases, Developmental / Q000235:genetics / Q000503:physiopathology*; D004838:Epiphyses / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005147:Facial Bones / Q000002:abnormalities*; D005192:Family Health; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities / Q000000981:diagnostic imaging