Acromesomelic dwarfism: report of a family with two affected siblings

Danda, S. ; Phadke, S. R. ; Agarwal, S. S. (1997) Acromesomelic dwarfism: report of a family with two affected siblings Indian Pediatrics, 34 (12). pp. 1127-1130. ISSN 0019-6061

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Official URL: http://indianpediatrics.net/dec1997/1127.pdf

Abstract

Acromesomelic dwarfism is a skeletal dysplasia characterized by disproportionate short stature with predominant involvement of the forearms and hands. Maroteaux et al.{l) first described this form of dwarfism. Over 36 cases have been described till date(2), Of them 3 families consisting of two siblings with definite diagnosis of acromesomelic dwarfism are described(3). Here, we report an Indian family with two affected siblings.

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