Fibular hypoplasia and complex brachydactyly (Du Pan syndrome) in an inbred Pakistani kindred.
A Pakistani kindred comprising 7 generations contained 7 men and 2 women with fibular hypoplasia and complex brachydactyly (syn: Du Pan syndrome). Analysis of the pedigree is strongly suggestive of autosomal recessive inheritance. The average inbreeding coefficient (F) for the affected persons was found to be significantly greater than that for unaffected persons in the pedigree and consanguineous loops could account for all affected persons being homozygous for the abnormal allele.
Ahmad
M
M
Department of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Abbas
H
H
Wahab
A
A
Haque
S
S
D003241:Consanguinity; D005260:Female; D005360:Fibula / Q000002:abnormalities*; D005532:Foot Deformities, Congenital / Q000235:genetics*; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D010154:Pakistan; D010375:Pedigree; D013577:Syndrome