Antecubital pterygium and cleft lip/palate presenting as signs of the nail-patella syndrome: report of a Brazilian family.
We report on 4 persons in a 3-generation Brazilian family presenting the nail-patella syndrome. Cleft lip/palate in one patient and antecubital pterygium in 3 of the reported patients are unusual findings related to this condition.
Richieri-Costa
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Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Brazil.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000151:congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D001938:Brazil; D002971:Cleft Lip / Q000150:complications*; D002972:Cleft Palate / Q000150:complications*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009262:Nails / Q000000981:diagnostic imaging; D009264:Nails, Malformed; D010329:Patella / Q000002:abnormalities; D010375:Pedigree; D011625:Pterygium / Q000150:complications*; D011859:Radiography; D013577:Syndrome