Figure 1.

Mother–daughter pairs showing some of the typical clinical findings in OFD1. The pedigree symbols for the family members refer to the pedigrees shown in Fig. 3. A–E Family 1: the mother (II-2, A) and her youngest, more severely affected daughter (III-2, B–E); F–L Family 6: mother (I-1, F, J) and her daughter (II-1, G–I, K–L); M, N Family 9: mother and daughter, O–S Family 10: mother (I-1, O and Q) and daughter (II-2, P–S). T–Z: The only affected individual in family 29, in whom the entire OFD1 gene is deleted on one allele. Typical facial features include frontal bossing (G, M, N, T), a broad nasal ridge (G, N, T), downslanting palpebral fissures (A, F, N, T), facial asymmetry (A, B, F, G, O), and midface hypoplasia (B, G, T). Typical oral features shown include cleft lip and bifid tongue (C, I, P), tongue hamartomas (C, I, X). Skeletal features include polydactyly (surgically corrected in E), brachydactyly (J, K, R, Y), clinodactyly (J, K, Q), and syndactyly (J, K). Alopecia is shown in patient 29 in U and V.