Figure 2.

Hand and Foot Features of Individuals Carrying Variants in HNRNPR

(A–C) Photographs of the hands of P1 (A), P2 (B), and P3 (C), taken when the subjects were the ages of 12 years, 3 years, and 10 years, respectively, showing short first and fifth digits with clinodactyly.

(D) An X-ray of the hand of P1, taken when the subject was 12 years of age, showing brachymesophalangy of the fifth finger, extra sesame bones, advanced skeletal age, and a special scaphotrapezoid coalition.

(E) An X-ray of the hand of P2, taken when the subject was one month of age, showing mild shortening of the basal phalanx of digit 1, brachyacrophalangy of digits 1 and 2, brachyacro- and mesophalangy of digit 5, and clinodactyly of the distal phalangeal joint of digit 2. No ossification of the middle phalanx of the fourth digit and both phalanges of the fifth digit was yet noted.

(F) An X-ray of the hand of P3, taken when the subject was 4 years of age, showing abnormal epiphyses, a short first and second digit, brachymesophalangy of the second and fourth digit, and brachyacro- and mesophalangy of the fifth digit. Incomplete ossification of the thumb was noted.