Shah, Hitesh and Girisha, KM (2012) Growth Retardation, Intellectual Disability, Facial Anomalies, Cataract, Thoracic Hypoplasia, and Skeletal Abnormalities: A Novel Phenotype. American Journal of Medical Genetics Part - A. pp. 1-5.
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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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | short stature; intellectual disability; retinitis pigmentosa; cataract; narrow thorax; microcephaly; hypotonia; laxity; kyphosis; scoliosis; dislocation of hip; slender bones |
| Subjects: | Medicine > KMC Manipal > Orthopaedics Medicine > KMC Manipal > Paediatrics |
| Depositing User: | KMC Manipal |
| Date Deposited: | 25 Sep 2012 04:45 |
| Last Modified: | 02 Jul 2014 05:01 |
| URI: | http://eprints.manipal.edu/id/eprint/77265 |
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