Source
Laboratoires de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint Joseph, Paris, France. megarban@dm.net.lb
Abstract
We report on a family of first cousin parents in which 2 of 3 children presented with congenital glaucoma, large anterior fontanelle, prominent forehead, hypertelorism, down-slanting palpebral fissures, broad and 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 deformities of fingers, club feet, and osseous malformations. Despite some 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.