Autosomal Dominant Syndrome of Camptodactyly, Clinodactyly, Syndactyly, and Bifid Toes

作者：Malik Sajid^*; Afzal Muhammad; Gul Sumera; Wahab Abdul; Ahmad Mahmud

来源：American Journal of Medical Genetics, Part A, 2010, 152A(9): 2313-2317.

DOI：10.1002/ajmg.a.33552

• camptodactyly
• clinodactyly
• syndactyly
• bifid toe
• synpolydactyly
• Pakistani family

We report on a 25-year follow-up of a Pakistani kindred with a unique combination of camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. The less common anomalies in the affected subjects include syndactyly involving all digits, and bifid toes. This condition is grossly bilateral, symmetrical, and affects upper and lower limbs of the 26 affected subjects in the kindred. The comparable number of affected male and female subjects (chi(2)=0.154, P<0.1), disease allele transmission by mother and father, and the malformation segregation in four consecutive generations are strongly suggestive of autosomal dominant inheritance. Differential diagnosis considered syndactyly types II, Ill, and V. Only type II syndactyly manifests noticeable phenotypic overlap with the clinical presentation in this family; however, the typical type II syndactyly changes are absent. To the best of our knowledge, this autosomal dominant limb phenotype has not been reported previously.

• 出版日期2010-9