SYNDROME OF MULTIPLE EPIPHYSEAL DYSPLASIA (RIBBING TYPE) WITH RHIZOMELIC SHORTNESS, CLEFT-PALATE, AND MICROGNATHIA IN 2 UNRELATED PATIENTS

We report on two unrelated patietns with an apparently new syndrome, I n each family they are the only affected members, their parents are no t consanguineous, and paternal and maternal ages are not advanced, At birth each patient was noted to have a marked Robin phenotype (cleft o f the secondary palate and micrognathia) plus rhizomelic shortness, De lay 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 g enu valgum developed in both. Both patients have normal intelligence, vision, and hearing. Both have mildly upward slanting palpebral pressu res, broad nasal tip, and apparent hypertelorism. (C) 1996 Wiley-Liss, Inc.