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.
Richieri-Costa
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Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Bauru, Brazil.
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