Figure 3: Clinical features of families with variants in novel candidate genes.

(a–d) A patient with a mutation in DIP2C showing (a) short humerus; (b) bilateral shortening of femora; (c) clinodactyly with shortening of metacarpal bones, a hypoplastic middle phalanx of the middle finger, and absent 1st left phalanx; and (d) bilateral metatarsus adduction, bilateral shortening of 1st metatarsals, which is more pronounced in the left with the first toe appearing small and rotated. (e and f) A patient with a mutation in PAN2 showing plagiocephaly, malar hypoplasia, short upslanted palpebral fissures, micrognathia, long philtrum, epicanthus, anteverted nares, short and depressed nasal bridge, and scoliosis. (g–j) A patient with a mutation in RIN1 showing plagiocephaly, frontal bossing, long philtrum, and epicanthus. 3D computed tomography skull of the same patient showing craniosynostosis. (k–q) A patient with a mutation in WNT3A showing osteopenia, bilateral coxa valga deformity, mild left radial and ulnar bowing, broadening of metaphases, and bilateral shortening of the great toes and thumbs. (r–x) A patient with a mutation in SUCO showing diffuse osteopenia, multiple fractures with limb deformities, and short long bones.