Fig. 1.

Top: facial photographs of the Norwegian patient from childhood until adult life. The maxillary hypoplasia was visible at age 1 year, giving a characteristic appearance. Joint contractures developed from age 4 years. She has had progressive scoliosis from age 14 years. Due to her fragile skin, operative correction has not been attempted. At age 18 years, she still had not lost her primary dentition, but the secondary incisors of the lower jaw were slowly emerging. Bottom: Corneal neovascularisation starting on her right eye at age 5–6 year causing severe visual impairment. She has fragile lipodystrophic skin with ulceration and osteolytic resorption of her feet and, to a lesser degree, her hands