Fig. 5.

Clinical features of patient 2: A1, A2 Facial features including microphthalmia, short neck, low hairline, highly arched eyebrows, hypoplastic helix, retrognathia, high arched palate, thin lips, dental abnormalities, and large ears. B1, B2 Typical skin abnormalities. Atrophic erythematous linear lesions and focal herniations of subcutaneous tissue. C1, C2 Skeletal malformations: include syndactyly of third and fourth fingers of the right hand, sacral dimple, pes planovalgus and overriding of toes