Camurati-Engelmann Disease: review of the clinical, radiological and molecular data of 24 families and implications towards diagnostics and treatment
نویسندگان
چکیده
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium Department of Radiology, University Hospital Antwerp, Antwerp, Belgium Department of Medical Genetics, University Hospital of Brussels, Brussels, Belgium Department of Rheumatology, University Hospital of Brussels, Brussels, Belgium Centre of Human Genetics, Institute of Pathology and Genetics, Loverval, Belgium Rheumatic Diseases Unit, University of Edinburgh, Edinburgh, UK Department of Rheumatology, Hospital Clinic, Barcelona, Spain Department of Genetics, Biology and Biochemistry, University of Torino, Torino, Italy Department of Pediatric Orthopaedics, Tel Aviv University, Tel Aviv, Israel Department of Molecular Genetics, Gaslini Institute, Genova Quarto, Italy Institute of Human Genetics, Aachen University, Aachen, Germany Clinical Genetics, St. James’s University Hospital, Leeds, UK Endocrinology/Diabetes Center, VU Medical Center, Amsterdam, the Netherlands Procrea, Mount-Royal, Canada Department of Medicine, University of Auckland, Auckland, New Zealand
منابع مشابه
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.
Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED families, comprising 41 patients, combined with data from 10 other previously reported CED families. For all 100 cases, molecular evidence for CED was available, as a mutation was detected in TGFB1, th...
متن کاملSkeletal Dysplasia Presenting as a Neuromuscular Disorder - Report of a Family with Camurati-Engelmann Syndrome.
We report the case of a 28-year-old female with progressive diaphyseal dysplasia, who presented with history of a similar neuromuscular condition. Clinical, radiological and molecular data confirmed Camurati-Engelmann Disease (CED). This is the first Romanian family who was diagnosed with CED.
متن کاملUnusual association between enchondroma and Camurati-Engelmann disease: A case report
This case report describes an enchondroma of the distal phalanx of the right little finger in a 37-year-old woman with Camurati-Engelmann disease. Curettage of the tumor and artificial bone grafting were performed in May 2004. Surgical treatment resulted in a good clinical outcome with no evidence of recurrence at 5-year follow-up. The genetic relationships between Camurati-Engelmann disease an...
متن کاملClinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease
Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disorder caused by a mutation in transforming growth factor β1 (TGFβ1). The present study aimed to identify a Chinese family with suspected CED based on the clinical symptoms, including pain in extremities, waddling gait, muscle weakness, cortical thickening of the diaphysis of the long bones, and sclerosis of the skull, facial ...
متن کاملCamurati–Engelmann disease-a rare cause of tetany identified on bone scintigraphy
RATIONALE Camurati-Engelmann disease (i.e., progressive diaphyseal dysplasia) is an extremely rare autosomal dominant bone disorder. The most common clinical manifestations were chronic skeletal pain, waddling gait, muscular weakness. PATIENT CONCERNS We described that a 27-year-old male with a 1-year history of intermittent tetany was referred for bone scintigraphy. The whole body bone scan ...
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