Autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet in male patients.
We report on 2 unrelated Brazilian boys with the syndrome of autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet. This is the first report of male patients.
Richieri-Costa
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Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
Pereira
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SC
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D001938:Brazil; D003025:Clubfoot / Q000235:genetics*; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008334:Mandible / Q000002:abnormalities*; D010855:Pierre Robin Syndrome / Q000235:genetics*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics