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Article

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

American journal of medical genetics. Part A - 1 Nov 2012

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

Abstract excerpt

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...

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Identifiers

PMID: 22987502
DOI: 10.1002/ajmg.a.35618
PMCID: PMC3477260

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Source receipt: pubmed, retrieved 7 Sept 2026.

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