CONGENITAL GLAUCOMA, LIMB DEFORMITIES, SKELETAL DYSPLASIA, AND FACIALANOMALIES - REPORT OF ANOTHER FAMILY

We report on a family of first cousin parents in which 2 of 3 children presented with congenital glaucoma, large anterior fontanelle, promin ent forehead, hypertelorism, downslanting palpebral fissures, broad an d flat nasal bridge, broad nasal tip, anteverted nostrils, high-arched palate, gingival hypertrophy, pectus excavatum, prominent coccyx with skin fold, short fingers and toes, single palmar creases, flexion def ormities of fingers, club feet, and osseous malformations, Despite som e clinical differences, their anomalies are very similar to those seen in a new and rare autosomal recessive entity described by ter Haar et al. [1982]. Differential diagnoses are discussed. (C) 1997 Wiley-Liss , Inc.