ABSTRACT
Objective@#To detect potential mutation in a Chinese pedigree affected with congenital limb malformations.@*Methods@#Clinical data was collected. Genomic DNA was extracted from peripheral blood samples of family members. The zone of polarizing activity regulatory sequence (ZRS) were amplified by PCR and subjected to direct sequencing.@*Results@#Among the 13 individuals in this pedigree, there were 4 PPD patients, who were characterized by varying degrees of deformity. The female patients suffered triphalangeal thumb and preaxial polydactyly, while the male patients only had preaxial polydactyly. Only one patient had foot involvement. TA heterogeneous mutations was discovered in the ZRS (105C>G) in all patients, the same mutation was not detected in 2 healthy family members.@*Conclusion@#The inheritance pattern of PPD was autosomal dominant inheritance. There was a significant variability of symptoms among family patients. The heterozygous mutation of the ZRS (105C>G) probably underlie the disease.
ABSTRACT
Thiphalangeal thumb is characterized by interposition of an extraphalanx between the two normal phalanges of the thumb. The extra-phalanx varies from a small triangular bone to a normal phalanx in what appears to be a thumbless five fingered hand. Triphalangeal thumbs are divided into three types and the treatment differs from associated anomalies and clinical features. We had a bilateral triphalangeal thumbs treated by closed wedge osteotomy to the extra-phalanx.