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Article

A familial dysmorphic condition with hypotonia, seizures and precocious puberty.

Clinical dysmorphology - 1 Jul 2008

Smith Audrey, Leask Kathryn, Tomlin Pamela, Donnai Dian

Abstract excerpt

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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PMID: 18541960
DOI: 10.1097/MCD.0b013e328302f0c4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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