A Brazilian family with quadrupedal gait, severe mental retardation, coarse facial characteristics, and hirsutism.
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.
Garcias
Gilberto De Lima
Gde L
Catholic University of Pelotas, Pelotas, RS, Brazil. garcias@phoenix.ucpel.tche.com.br
Roth
Maria Da Graça Martino
Mda G
D000328:Adult; D025063:Chromosome Disorders / Q000235:genetics*; D003241:Consanguinity; D019066:Facies; D005192:Family Health; D005260:Female; D005684:Gait; D020233:Gait Disorders, Neurologic / Q000235:genetics / Q000503:physiopathology; D005808:Genes, Recessive / Q000235:genetics; D006628:Hirsutism / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D012720:Severity of Illness Index; D013577:Syndrome