Aarskog syndrome in a Brazilian boy born to consanguineous parents.
We report on a Brazilian boy (F = 1/16) born to consanguineous parents and presenting with typical Aarskog syndrome. Genetic aspects and phenotypic manifestations of this patient are compared with those of the (X-linked) Aarskog syndrome and with the autosomal recessive faciodigitogenital syndrome.
Guion-Almeida
M L
ML
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
Richieri-Costa
A
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D003241:Consanguinity; D005147:Facial Bones / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D005837:Genitalia, Male / Q000002:abnormalities; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D008297:Male; D013577:Syndrome