Tibial hemimelia-cleft lip/palate in a Brazilian child born to consanguineous parents.
We report on a Brazilian boy with widely cleft lip and palate and bilateral tibial hemimelia. Normal consanguineous parents, unremarkable gestational antecedents, and normal peripheral lymphocytes and chromosomes suggest autosomal recessive inheritance.
Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Bauru, Brazil.
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Richieri-Costa
D000015:Abnormalities, Multiple / Q000235:genetics*; D001938:Brazil; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003241:Consanguinity; D005787:Gene Frequency; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D012306:Risk; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging