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Recurrent Femoral Fractures in a Boy with an Atypical Progeroid Syndrome: A Case Report
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Recurrent Femoral Fractures in a Boy with an Atypical Progeroid Syndrome: A Case Report
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Journal Article
Recurrent Femoral Fractures in a Boy with an Atypical Progeroid Syndrome: A Case Report
2020
Overview
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).
Publisher
Springer US,Springer Nature B.V
Subject
