Recurrent Femoral Fractures in a Boy with an Atypical Progeroid Syndrome: A Case Report

We present a 16-year-old Chinese male patient with the typical features of APS, such as progeroid manifestations, cutaneous mottled hyperpigmentation, generalized lipodystrophy, and severe metabolic complications. The patient has also been detected with some rare and severe skeletal features, such as severe osteoporosis, generalized thinning of cortical bone, and recurrent femoral fractures. Genetic mutation detection in theLMNA gene revealed a de novo heterozygous mutation, the c. 29C>T (p. T10I).

http://link.springer.com/10.1007/s00223-019-00639-5

Source: Calcified Tissue International - December 4, 2019 Category: Orthopaedics Source Type: research