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Article

Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome.

African health sciences - 1 Jun 2021

Elalaoui Siham Chafai, Smaili Wiam, Van-Gils Julien, Fergelot Patricia, Ratbi Ilham, Tajir Mariam, Arveiler Benoit, Lacombe Didier, Sefiani Abdelaziz

Abstract excerpt

BACKGROUND: Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is a rare autosomal dominant developmental disorder with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical face, broad thumbs and halluces, short stature, and intellectual disability. Facial dysmorphy is characteristic with microcephaly, low frontal hairline, arched eyebrows, long eyelashes, convex profile of...

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PMID: 34795756
DOI: 10.4314/ahs.v21i2.58
PMCID: PMC8568211

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