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Coffin-Siris syndrome in a child with consanguineous parents

A.P.S. Ferreira; A.X. Acosta; J.M. Pina-Neto; E.S. Ramos

Departamento de Genética e Matemática Aplicada à Biologia, Faculdade de Medicina de Ribeirão Preto, USP, 14049-900 Ribeirão Preto, SP, Brasil. Send correspondence to J.M.P.N.

ABSTRACT

We report on a female patient born of consanguineous parents (first cousins) who presented short stature, hypotonia, joint laxity, delayed psychomotor development, microcephaly, sparse scalp hair, retarded bone age, coarse face, thick eyebrows, long eyelashes, hypertrichosls on the back of the trunk, hypoplasia of distal phalanges of digits of the hands and feet, and hypoplastlc fingernails of the fifth toe. These findings are consistent with the Coffin-Siris syndrome, the etiology of which is not yet defined. The presence of parental consanguinity suggests autosomal recessive inheritance.

Keywords: Coffin-Siris; consanguineous parents.

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