| Main clinical features
|
prematurely aged appearance involving lipoatrophy and epidermal and dermal atrophy, as well as hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acroosteolysis
also sparse hair, bitemporal prominences, closely spaced eyes, moderate to severe sensorineural hearing loss, skeletal survey showed small maxilla and thin long bones, as well as acroosteolysis of all distal phalanges and delayed bone age
proptosis, a convex nasal bridge, underdeveloped cheekbones, delayed closure of the fontanels, delayed tooth eruption, progressive cutaneous atrophy and hypertrophic skin lesions |