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A BRAZILIAN FAMILY WITH QUADRUPEDAL GAIT, SEVERE MENTAL RETARDATION, COARSE FACIAL CHARACTERISTICS, AND HIRSUTISM

2007; Taylor & Francis; Volume: 117; Issue: 7 Linguagem: Inglês

10.1080/00207450600910721

1563-5279

Gilberto de Lima Garcias, Maria da Graça Martino Roth,

Genomics and Rare Diseases

This article describes the case of four brothers, born of a consanguineous couple, that present a severe mental retardation syndrome, coarse facial characteristics, hirsutism, quadrupedal gait (pithecoid walk), small stature, absence of speech, strabismus as well as having small hands and feet. This case seems to be a behavioral syndrome, which was inherited in an autosomal recessive manner not previously recorded.