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

Hitesh Shah, Susanne Bens, Almuth Caliebe, John M. Graham, Katta Mohan Girisha

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)2941-2945
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number11
DOIs
Publication statusPublished - 11-2012

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Genetics

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