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

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).

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Acknowledgements

We are grateful to the patient and his family for their collaboration.

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Correspondence to Weibo Xia.

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Ruizhi Jiajue, Kai Feng, Rui Wang, and Weibo Xia declare that they don’t have conflict of interest in this work.

Human and Animal Rights and Informed Consent

All procedures performed in studies involving human participants were in accordance with the ethical standards of the Department of Scientific Research and the ethics committee in PUMCH and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Jiajue, R., Feng, K., Wang, R. et al. Recurrent Femoral Fractures in a Boy with an Atypical Progeroid Syndrome: A Case Report. Calcif Tissue Int 106, 325–330 (2020). https://doi.org/10.1007/s00223-019-00639-5

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Keywords

  • Atypical progeroid syndrome
  • Osteoporosis
  • Femoral fractures
  • Diabetes
  • Lipodystrophy