JOINT LAXITY, VITREORETINAL DEGENERATION, FACIAL ABNORMALITIES, AND GENERALIZED SKELETAL ALTERATIONS - A NEW SYNDROME

A Japanese girl with a hitherto unknown combination of malformations i s reported. The cardinal features included hyperextensibility of the j oints, vitreoretinal degeneration with cataracts, and facial abnormali ties, comprising hypertelorism, prominent eyes, downslanting of the pa lpebral fissures, mid-face recession with a short nose, deformed auric les, and microretrognathia with a high arched palate. Skeletal survey revealed multiple wormian bones, hypoplastic facial bones and mandible , narrow thorax with wavy ribs, narrow ilia, and coxa valga with sligh t broadening of the proximal femora, findings of which were individual ly minor, but the assemblage of which assisted in the syndromic identi fication. Although skin biopsy did not contribute to the causal clarif ication, it was tempting to speculate that the syndromic constellation of the present disorder resulted from an underlying defect of connect ive tissues.