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Coffin-siris syndrome in a brazilian child with consanguineous parents

A. Richieri-Costa^I; R. Monteleone-Neto^II; M.L. Gonzales^III

^IDepartamento de Genética, Instituto Básico de Biologia Médica e Agrícola de Botucatu, UNESP, 18610 Botucatu, SP, Brasil. Send correspondence to A.R.-C.
^IIDisciplina de Genética, Escola Paulista de Medicina, Caixa Postal 20363, 04005 São Paulo, SP, Brasil
^IIIHospital Guilherme Alvaro, 11100 Santos, SP, Brasil

ABSTRACT

We report on a Brazilian female patient born of consanguineous parents, with short stature, mental retardation, microcephaly, flat occiput, low-set thin and abundant scalp hair, deeply-set eyes, wide nasal tip and mouth, small teeth, enamel hypoplasia, hypoplastic and clinodactylous 5th finger and hypoplastic nails, mainly of the 5th digits. The diagnosis is consistent with the Coffin-Siris syndrome and the presence of parental consanguinity suggests autosomal recessive inheritance. Clinical and genetical aspects of the Coffin-Siris syndrome are discussed.

Keywords: coffin-siris syndrome; consanguineous parents.

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