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Ectrodactyly, cleft lip/palate, ventricular septal defect, micropenis and mental retardation in a brazilian child born to consanguineous parents

A. Richieri-Costa^I; L.C. Orquizas^II

^Iaboratório de Genética Humana, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, USP, 17043 Bauru, SP, Brasil. Send correspondence to A.R.-C.
^IIDepartamento de Genética, Instituto Básico de Biologia Médica e Agrícola. UNESP, 18600 Botucatu, SP, Brasil.

ABSTRACT

We report on a Brazilian boy with mental retardation, micro-brachycephaly , cleft lip/palate, lobster claw hands and feet, ventricular septal defects and micropenis. Normal consanguineous parents (F = 1/16), unremarkable prenatal history and normal peripheral lymphocyte karyotype suggest autosomal recessive inheritance.

Keywords: ectrodactyly; ventricular; septal; micropenis; mental; retardation; consanguineous.

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