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Case Reports
. 2008 Jul;17(3):161-164.
doi: 10.1097/MCD.0b013e328302f0c4.

A familial dysmorphic condition with hypotonia, seizures and precocious puberty

Audrey Smith  1 , Kathryn Leask, Pamela Tomlin, Dian Donnai
Affiliations
Case Reports

A familial dysmorphic condition with hypotonia, seizures and precocious puberty

Audrey Smith et al. Clin Dysmorphol. 2008 Jul.

Abstract

Three siblings are described with a distinct phenotype characterized by dysmorphic facial features, profound hypotonia, seizures and precocious puberty. No cause has been identified in spite of numerous investigations, including array-comparative genomic hybridization at a resolution of 1 Mb. Autosomal recessive inheritance is a possibility given that three siblings of both sexes are affected.

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