Tibial hemimelia: report on 37 new cases, clinical and genetic considerations.
We report on 37 patients belonging to different families, who have the tibial hemimelia-split hand/foot syndrome. Genetic aspects and phenotypic manifestations are compared with previous reports of tibial hemimelia. An attempt to clinical and genetical approach is suggested.
Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitação de Lesões Lábio Palatais, USP, Bauru, Brazil.
A
A
Richieri-Costa
I
I
Ferrareto
D
D
Masiero
C R
CR
da Silva
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics* / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging