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Article

Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters.

American journal of medical genetics. Part A - 1 Jan 2014

Sousa Sérgio B, Ramos Fabiana, Garcia Paula, Pais Rui P, Paiva Catarina, Beales Philip L, Moore Gudrun E, Saraiva Jorge M, Hennekam Raoul C M

Abstract excerpt

We report on two Portuguese sisters with a very similar phenotype characterized by severe intellectual disability, absent speech, relative macrocephaly, coarse face, cerebellar hypotrophy, and severe ataxia. Additional common features include increased thickness of the cranial vault, delayed dental eruption, talipes equino-varus, clinodactyly, and camptodactyly of the fifth finger. The older sister has retinal...

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PMID: 24501761
DOI: 10.1002/ajmg.a.36235

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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