Minor manifestations in preaxial polydactyly type 1 and Poland complex

Abstract

We report three unrelated patients: two (patients 1 and 3) with preaxial polydactyly type 1 (PPT1), and one (patient 2) with PPT1 and Poland complex, and previously undescribed minor manifestations in the parents. The mother of patient 1 has camptodactyly with mild ulnar deviation of the distal phalanx of left thumb. The mother of patient 2 has symmetrical minor changes of both hands: mild camptodactyly of digits 4 and 5; mild clinodactyly of right 5th digit; absent or hypoplastic DIP flexion creases of digits 2, 3, 4 and 5; and tight skin around the middle phalanx of the 4th fingers. The mother of patient 3 has mild camptodactyly of the proximal phalanx of the thumbs.