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Article

Intellectual disability, unusual facial morphology and hand anomalies in sibs.

American journal of medical genetics. Part A - 1 Oct 2013

Sousa Sérgio B, Venâncio Margarida, Chanudet Estelle, Palmer Rodger, Ramos Lina, Beales Philip L, Moore Gudrun E, Saraiva Jorge M, Hennekam Raoul C

Abstract excerpt

Here we report on a Portuguese family with three sisters who shared moderate intellectual disability, unusual facial morphology (short palpebral fissures; broad nasal tip; thin upper and lower vermillion; broad and pointed chin) and hand anomalies in two of them (short left third and fifth right metacarpals in one case; marked syndactyly between the third and fourth fingers in another). One of the sisters had...

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Identifiers

PMID: 23949889
DOI: 10.1002/ajmg.a.36124

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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