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Article
Open AccessLoeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients
Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disorder showing the involvement of cutaneous, cardiovascular, craniofacial, and skeletal systems. In particular, LDS patients show arterial tortuosity w...
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Article
Open AccessSkeletal dysplasias: approach to the clinical diagnosis and implication of appropriate diagnosis for knowledge and research studies in these rare diseases. Hereditary multiple Osteochondromas as example/paradigm
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Article
Open AccessHereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat?
Osteochondroma generally occurs as a single lesion and it is not a heritable disease. When two or more osteochondroma are present, this condition represents a genetic disorder named hereditary multiple exostos...
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Article
Open AccessMelorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series
Melorheostosis (MEL) is an uncommon, sclerosing disease, characterised by hyperostosis of long bones, resembling the flowing of candle wax. The disease is sporadic and the pathogenesis is still poorly understo...
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Article
Open AccessSecondary peripheral chondrosarcoma arising in solitary osteochondroma: variables influencing prognosis and survival
Secondary peripheral chondrosarcomas arising in solitary osteochondromas is an unusual complication, reported in small series. In this study, we aimed to present our experience with this rare variant of chondr...
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Article
Open AccessCost-effectiveness of bringing a nurse into an Italian genetic day clinic: a before and after study
Only a few studies explore the role of nurses in genetic counselling and genetic health care, and none of them is related to orphan diseases. In addition, few studies address the issue of finding variables tha...
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Article
Open AccessSecondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series
Multiple osteochondromas is genetic disorder characterized by the formation of multiple benign cartilage-capped bone tumors, named osteochondromas, during skeletal development. The most feared complication is ...
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Article
Open AccessHealth-related quality of life and associated risk factors in patients with Multiple Osteochondromas: a cross-sectional study
To evaluate the health-related quality of life and associated risk factors for Multiple Osteochondromas patients.
