Report of a case and further delineation of the SHORT syndrome
- 1 October 1985
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 22 (2) , 311-314
- https://doi.org/10.1002/ajmg.1320220214
Abstract
We describe a boy with the manifestations of the SHORT syndrome: lipoatrophy, delayed speech development, minor facial anomalies, clinodactyly, and short stature. In addition, this boy had deafness, which was not previously reported in the SHORT syndrome.Keywords
This publication has 1 reference indexed in Scilit:
- Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetesAmerican Journal of Medical Genetics, 1983