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Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: A novel phenotype
Author(s) -
Shah Hitesh,
Bens Susanne,
Caliebe Almuth,
Graham John M.,
Girisha Katta Mohan
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35618
Subject(s) - microcephaly , kyphoscoliosis , medicine , hypoplasia , anatomy , intellectual disability , blepharophimosis , microstomia , brachydactyly , short stature , scoliosis , pediatrics , pathology , ophthalmology , surgery , ptosis , psychiatry
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.