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Newly recognized autosomal recessive MCA/MR/overgrowth syndrome
A Richieri-Costa1, M L Guion-Almeida, M M Cohen
1Serviço de Genética Dlínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
American Journal of Medical Genetics
|August 15, 1993
Abstract:
We report on two sibs, born to nonconsanguineous parents, presenting with mental retardation, overgrowth, craniosynostosis, distal arthrogryposis, sacral dimple, and joint laxity. These patients may have a previously undescribed autosomal recessive syndrome.