Figure 3.

Individual II-1 from Family B at Different Ages

(A) When individual II-1 was 6 weeks of age, facial dysmorphism included wide and downward-slanting palpebral fissures, a broad nasal bridge and tip, ptosis of the right eye, a tented upper lip, large ears with fleshy and uplifted ear lobules, and facial asymmetry.

(B) Facial appearance when individual II-1 was 9 months old.

(C) At the age of 18 months.

(D) Nail hypoplasia of the second and fifth digits and clinodactyly V.

(E) Hand radiograph when individual II-1 was 1 week old. Note brachytelephalangy II to V, mostly affecting fingers II and V, and a broad distal phalanx of the thumb.

(F) Nail hypoplasia of all toes.