Syndrome of multiple epiphyseal dysplasia (ribbing type) with rhizomelic shortness, cleft palate, and micrognathia in two unrelated patients.
We report on two unrelated patients with an apparently new syndrome. In each family they are the only affected members, their parents are not consanguineous, and paternal and maternal ages are not advanced. At birth each patient was noted to have a marked Robin phenotype (cleft of the secondary palate and micrognathia) plus rhizomelic shortness. Delay in the appearance of long bone epiphyses was noted and followed by small fragmented and later very flat epiphyses of all long bones. The fibulae are short and radial heads dislocated. Scoliosis and marked genu valgum developed in both. Both patients have normal intelligence, vision, and hearing. Both have mildly upward slanting palpebral fissures, broad nasal tip, and apparent hypertelorism.
Lowry
R B
RB
Department of Medical Genetics, University of Calgary, Alberta, Canada.
Wesenberg
R L
RL
Hall
J G
JG
D000328:Adult; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D002972:Cleft Palate; D004838:Epiphyses / Q000000981:diagnostic imaging; D005260:Female; D006130:Growth Disorders; D006309:Hearing; D006801:Humans; D007231:Infant, Newborn; D007360:Intelligence; D007569:Jaw Abnormalities; D008297:Male; D008423:Maternal Age; D010009:Osteochondrodysplasias; D010331:Paternal Age; D011859:Radiography; D013577:Syndrome; D014785:Vision, Ocular