Aplasia of the tibia with bifurcation of the femur and ectrodactyly: evidence for an autosomal recessive type.
Two unrelated families are presented, each with 2 affected offspring with bifid femur, absent tibia, and ectrodactyly. The healthy parents are consanguineous. It is postulated that this combination of malformations is causally heterogenous with both autosomal dominant and autosomal recessive modes of inheritance; hence, it is established as a developmental field defect.
Institute of Medical Genetics, Beilinson Medical Center, Petah Tiqva, Israel.
G
G
Kohn
R
R
el Shawwa
M
M
Grunebaum
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D011859:Radiography; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging