Fig. 2.

Clinical features of subjects with CHRNG mutations and non-lethal variant of MPS. Case IV:1 from family 1, demonstrates a very short neck, mild pterygia in the axillae, elbows and knees, contracture of joints, clenched hands with thumbs held across palm and club feet, at 1 month of age. The elbows and knees were held in flexed position and had limitation of movement (a and b). She had rockerbottom feet (c). In family 2, individual II:1 has multiple joint contractures in the neck, shoulders, elbows, wrist, fingers, knees and halluces were noted (d) and dimpling in the elbows (e). She has a capillary hemangioma on nasal nip and forehead, and micrognathia in the face (f). In family 3, individual IV:3 at the age of 7 years demonstrates facial dysmorphism including posterior and anterior low hairline, down-slanting palpebral fissures, epicanthal folds, broad nose, high nasal bridge, long philtrum, high-arched palate, rockerbottom feet, and micrognathia (g). He has camtodactyly of all fingers and skin syndactyly of fingers (h) and the teeth are small and malpositioned (i). The micropenis is apparent (j)