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Indian J Hum Genet ; 2013 Jan; 19(1): 108-110
Artículo en Inglés | IMSEAR | ID: sea-147648

RESUMEN

Congenital absence of tibia is a rare anomaly, and may be total or partial, unilateral or bilateral. Total absence is more frequent than partial, unilateral absence occurs more often than bilateral, with right limb more commonly affected than the left. In partial defect, almost always the distal end of the bone is affected, and of the bilateral cases, there may be total absence on both sides, or total on one side and partial on the other. Males are slightly more commonly affected than the females. Though, the family history is usually negative for congenital abnormalities and other diseases, there is a considerable chance of occurrence of congenital defect of the tibia or of other abnormalities, in near or remote relatives. We report a case of newborn having bilateral tibial hemimelia type VIIa.


Asunto(s)
Anomalías Congénitas/genética , Humanos , Recién Nacido , Masculino , Aplasia Pura de Células Rojas/epidemiología , Tibia/anomalías
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