PMC

 Pedigrees of the familial cases reported in this article.

 Clinical pictures of the reported patients showing oral abnormalities. Left side, patients with mutations identified in OFD1: (A) Individual IV‐3, family 1 with buccal frenulae and lingual hamartoma. (B, C) Proband of family 4 with cleft and lobulated tongue, buccal frenulae, and surgery for cleft palate. (D) Proband of family 5 with cleft and lobulated tongue, buccal frenulae, and lingual hamartoma. (E) Proband of family 6 with cleft and lobulated tongue, buccal frenulae, lingual hamartoma, narrow palate, tooth abnormalities, and surgery for cleft palate. (F, G) Twin 1 and 2, family 8 with buccal frenulae, hypodontia, and abnormally shaped teeth. H) Proband of family 9 with lobulated tongue, hypodontia, and abnormally shaped teeth of the inferior maxilla. Right side, patients without mutations in OFD1: (A) Individual IV‐2, family 12 with cleft palate. (B) Individual III‐2, family 12 with lingual hamartoma. (C) Individual III‐3, family 13 with cleft and lobulated tongue and dental misposition. (D) Proband of family 16 with cleft and lobulated tongue. Permission from the patients was obtained for publication of these photographs.

 Clinical pictures of the reported patients showing distal abnormalities. Left side, patients with mutations identified in OFD1: (A) Individual IV‐3 in family 1 with postaxial polydactyly. (B) Individual III‐3 in family 1 with brachydactyly predominant on the fourth and clinodactyly on the third finger. (C) Proband of family 4 with severe brachydactyly predominant on the fourth finger and clinodactyly. (D, E) Proband of family 5 at 7 months and at 11½ years of age, with brachydactyly on fingers III‐IV and clinodactyly. (F) Proband of family 6 with severe generalised brachydactyly predominant on finger I and clinodactyly. (G) Proband of family 11 with brachydactyly. Right side, patients without mutations in OFD1: (A) Individual III‐2, family 12 with brachydactyly, clinodactyly, and low set and deviated left thumb. (B) Individual III‐3, family 13 with brachydactyly, clinodactyly, and syndactyly. (C) Individual II‐2, family 13 with severe brachydactyly. (D) Proband of family 14 with severe brachydactyly predominant on finger IV. (E) Proband of family 16 with brachydactyly and syndactyly. Permission from the patients was obtained for publication of these photographs.