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Keywords:

  • atopic dermatitis;
  • blepharophimosis;
  • blepharoptosis;
  • cone-shaped epiphysis;
  • hyperopic astigmatism;
  • mandibular prognathism;
  • mental retardation;
  • obesity

Abstract

We report two daughters of a Thai family affected with mental retardation, delayed speech, obesity, craniofacial manifestations, and ocular anomalies. Craniofacial manifestations included macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth. Ocular anomalies consisted of blepharophimosis, blepharoptosis, decreased visual acuity, abducens palsy, hyperopic astigmatism, and accommodative esotropia. Chronic atopic dermatitis, lateral deviation of the great toes, and cone-shaped epiphyses of the toes were observed. The disorder is suggested to be autosomal recessive. The combination of findings found in our patients has not hitherto been described. © 2001 Wiley-Liss, Inc.