Report of a case and further delineation of the SHORT syndrome
- PMID: 4050863
- DOI: 10.1002/ajmg.1320220214
Report of a case and further delineation of the SHORT syndrome
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.
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