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Brief clinical report: Sporadic, idiopathic MCA/MR syndrome with the tibial aplasia/femoral bifurcation field defect

A. Richieri-Costa; Y. van Bever

Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, USP, 17043 Bauru, SP, Brasil

ABSTRACT

This paper reports on an 8-year-old Brazilian boy with a previously undescribed, sporadic, idiopathic multiple congenital anomaly/mental retardation (MCA/MR) syndrome of microcephaly, mild malar hypoplasia, abnormal ears and nose, cleft lip, and the tibial hemimelia/femoral bifurcation field defect.

Keywords: Idiopathic MCA/MR syndrome; Tibial aplasia/femoral bifurcation.

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