Multiple Epiphyseal Dysplasia With Robin Phenotype

Lowry et al. (1996) described 2 unrelated patients with a phenotype consisting of small flat epiphyses, cleft of the secondary palate, micrognathia, and rhizomelic shortening of the limbs. Both had a similarly broad nasal tip, upward slanting palpebral fissures, and mild joint contractures. Stickler syndrome (108300) was considered in the differential diagnosis of both children, but neither had eye findings or flattening of the midface. Additionally, the radiographic findings in these children were not those of Stickler syndrome. The mode of inheritance could not be determined as both cases were sporadic.