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

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ID: 68601
2019
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Abstract
Mutations in the gene LMNA cause a wide spectrum of diseases that are now referred to laminopathies, such as muscular dystrophies, cardiomyopathies, and progeroid syndromes. Atypical progeroid syndrome (APS) is a type of progeroid syndrome mainly associated with LMNA mutations. Abnormal skeletal features associated with APS, such as osteoporosis and acroosteolysis, are rarely reported, and recurrent fractures have never been documented. 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 the LMNA gene revealed a de novo heterozygous mutation, the c. 29C>T (p. T10I).
Reference Key
jiajue2019recurrentcalcified Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Jiajue, Ruizhi;Feng, Kai;Wang, Rui;Xia, Weibo;
Journal calcified tissue international
Year 2019
DOI
10.1007/s00223-019-00639-5
URL
Keywords
Diabetes osteoporosis atypical progeroid syndrome femoral fractures lipodystrophy

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