Figure 1.

Clinical features of the OFD-affected individuals described in this study

(A) Orodental characteristics of P1 with accessory frenula of the upper lip, hypodontia, median notching of the lower lip, and excessive dental caries.

(B and C) Images showing lobulated tongue with nodules in P2 (B) and P3 (C).

(D) Hypodontia in the form of congenital absence of lower central incisors and median notching of the upper lip in P4.

(E) X-ray of the hands of P1 showing bilateral postaxial polydactyly (left, seven fingers; right, six fingers), left Y-shaped fifth metacarpal and severe mesophalangeal shortening.

(F) Brachydactyly, broad hands, and interdigital webbing in P1. Extra digits were surgically removed.

(G) Right hand of P2 demonstrating pre- and postaxial polydactyly (eight fingers) with syndactylous lateral three fingers.

(H) Left hand radiograph of P2 showing polydactyly and Y-shaped fourth metacarpal.

(I) Right foot of P2 showing broad duplicated hallux, syndactyly between toes, and triplicated fifth toe.

(J) Brachydactyly, partial skin syndactyly, dystrophic nails, and broad halluces in P3 feet post-surgery.

(K) X-ray (AP view) of the feet of P3 showing pre- and postaxial polydactyly, hypoplastic middle and distal phalanges, medially deviated extra preaxial metatarsals, and Y-shaped fifth metatarsal on the right foot.

(L) Brachydactyly, partial cutaneous syndactyly of the toes, broad and medially deviated halluces, and small nails of P4.

(M) Severe shortening of the legs of P2.

(N) X-ray lower limbs of P3 showing bilateral coxa valga with mild shortening of tibiae.