Achondrogenesis type II with cutaneous hamartomata

摘要

Summary:A male infant delivered in 2000 in Cape Town, South Africa, as a stillborn breech at the 34th week of pregnancy had the characteristic clinical and radiographic manifestations of achondrogenesis type II (ACG2) (Fig. 1). In addition, a hairless papillomatous skin lesion of 6 cm in diameter was present on the scalp in the right parietal region. The centre of the lesion was depressed with central ulceration. A similar lesion on the posterior aspect of the right shoulder had radiating folds (Fig. 2). These tumours had the typical appearance of infantile hamartomata.The mother was aged 30 years. She was in good health and her HIV status was negative. Her pregnancy had been uneventful and she was not known to have been exposed to any medicinal therapy or environmental agents that might have been embryopathic. Nothing was known of the father of the deceased infant. The family history was otherwise negative