Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: report of another family

Am J Med Genet. 1997 Nov 28;73(1):67-71. doi: 10.1002/(sici)1096-8628(19971128)73:1<67::aid-ajmg13>;2-p.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Face / abnormalities*
  • Female
  • Foot Deformities, Congenital / genetics
  • Glaucoma / congenital*
  • Glaucoma / genetics
  • Hand Deformities, Congenital / genetics
  • Humans
  • Infant
  • Limb Deformities, Congenital*
  • Male
  • Osteochondrodysplasias* / congenital
  • Osteochondrodysplasias* / genetics
  • Radiography
  • Skull / diagnostic imaging
  • Spine / diagnostic imaging