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Keywords:

  • short stature;
  • intellectual disability;
  • retinitis pigmentosa;
  • cataract;
  • narrow thorax;
  • microcephaly;
  • hypotonia;
  • laxity;
  • kyphosis;
  • scoliosis;
  • dislocation of hip;
  • slender bones

Abstract

We report on a 14-year-old girl with growth deficiency, microcephaly, intellectual disability, distinctive dysmorphic features (bulbous nose with wide nasal base, hypotelorism, deeply set eyes, protruding cupped ears, and thick lower lip), cataract, pigmentary retinopathy, hypoplastic thorax, kyphoscoliosis, and unusual skeletal changes but without chromosomal imbalances detected by array-CGH who probably represents a novel phenotype. © 2012 Wiley Periodicals, Inc.