Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0851184 (
thinning
)
11,252
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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).
...
PMID:Recurrent Femoral Fractures in a Boy with an Atypical Progeroid Syndrome: A Case Report. 3180 3
