Conflict of interest: none to declare.
Article first published online: 17 SEP 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Special Issue: SPECIAL ISSUE: GROWTH CHARTS IN GENETIC SYNDROMES
Volume 158A, Issue 11, pages 2941–2945, November 2012
How to Cite
Shah, H., Bens, S., Caliebe, A., Graham, J. M. and Girisha, K. M. (2012), Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: A novel phenotype. Am. J. Med. Genet., 158A: 2941–2945. doi: 10.1002/ajmg.a.35618
How to Cite this Article: Shah H, Bens S, Caliebe A, Graham JM, Girisha KM. 2012. Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: A novel phenotype. Am J Med Genet Part A 158A: 2941–2945.
- Issue published online: 17 OCT 2012
- Article first published online: 17 SEP 2012
- Manuscript Accepted: 16 JUL 2012
- Manuscript Received: 13 FEB 2012
- NIH/NICHD program project grant. Grant Number: HD22657
- Medical Genetics NIH/NIGMS training program grant. Grant Number: 5-T32-GM08243
- short stature;
- intellectual disability;
- retinitis pigmentosa;
- narrow thorax;
- dislocation of hip;
- slender bones
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.