Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype

Am J Med Genet A. 2012 Nov;158A(11):2941-5. doi: 10.1002/ajmg.a.35618. Epub 2012 Sep 17.

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Adolescent
  • Cataract / diagnosis*
  • Comparative Genomic Hybridization
  • Facies
  • Female
  • Growth Disorders / diagnosis*
  • Humans
  • Intellectual Disability / diagnosis*
  • Kyphosis / diagnosis*
  • Kyphosis / diagnostic imaging
  • Pelvis
  • Phenotype*
  • Radiography
  • Scoliosis / diagnosis*
  • Scoliosis / diagnostic imaging
  • Spine / diagnostic imaging
  • Syndrome
  • Thorax / abnormalities