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Camurati-Engelmann Disease in Conjunction with Hypogonadism
Endocrine Practice, 2005To report a case of Camurati-Engelmann disease (CED) in conjunction with hypogonadism, an association that has not been previously described.We present the clinical, laboratory, and histopathologic features of our case. In addition, we review the molecular genetics of CED.CED is a rare autosomal dominant disorder of the skeleton, characterized by ...
Shaili, Gupta, Issam E, Cheikh
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Unusual otological manifestations in Camurati-Engelmann's Disease
The Journal of Laryngology & Otology, 2006Camurati-Engelmann's disease (CED) is a rare hereditary disorder affecting mainly the diaphysis of long bones but multiple cranial nerve deficits may also develop secondary to bony sclerosis of their foramina, including visual loss, facial palsy, deafness, vestibular disturbances and sensory deficits along the distribution of the trigeminal nerve ...
I, Moumoulidis +3 more
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2015
Clinical History: A 26 year-old male patient presented at the emergency department after trauma to the right wrist, left shoulder and the head after an assault. He also mentioned long-standing limb pain, especially around the knees and ankles. Neurological examination was ...
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Clinical History: A 26 year-old male patient presented at the emergency department after trauma to the right wrist, left shoulder and the head after an assault. He also mentioned long-standing limb pain, especially around the knees and ankles. Neurological examination was ...
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Camurati-Engelmann disease or Ribbing disease
Joint Bone Spine, 2021Jean-Jacques, Dubost, Martin, Soubrier
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Immune dysfunction in Camurati-Engelmann disease
Journal of Allergy and Clinical Immunology, 2004Abstract Rationale Camurati-Engelmann disease (CED) is a progressive, autosomal dominant sclerosing bone dysplasia involving gene mutation of the latency-associated peptide of tumor growth factor (TGF)-β1, preventing inactivation of the cytokine. Since TGF-β is thought to play a regulatory role in immunity, one might expect an immune dysfunction in ...
E. Lu, Z.K. Ballas
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Nihon rinsho. Japanese journal of clinical medicine, 2016
Camurati-Engelmann disease (CAEND, OMIM 131300) is a rare autosomal dominant, progressive diaphyseal dysplasia, which is characterized by hyperosteosis and sclerosis of the diaphyses of long bones. Estimated number of patients with CAEND in Japan is approximately 50-60 by our epidemiological survey.
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Camurati-Engelmann disease (CAEND, OMIM 131300) is a rare autosomal dominant, progressive diaphyseal dysplasia, which is characterized by hyperosteosis and sclerosis of the diaphyses of long bones. Estimated number of patients with CAEND in Japan is approximately 50-60 by our epidemiological survey.
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Diaphyseal Dysplasia (Camurati-Engelmann Disease)
1980Camurati (1922) described a seven-year-old boy with painful lower limbs and diaphyseal cortical thickening in the long bones of the legs. The 55-year-old father and eight of their family members in four generations were thought to be affected, and the condition was termed ‘hereditary symmetrical osteitis’.
Peter Beighton, Bryan J. Cremin
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Camurati-Engelmann Disease (Mim 131300)
2012Chapter 106 covers Camurati-Englemann disease (MIM 131300), including major clinical findings, radiographic features, and differential diagnoses.
Jürgen W. Spranger +4 more
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[Camurati-Engelmann disease: a case report].
Acta reumatologica portuguesa, 2014Camurati-Engelmann disease (CED) or progressive diaphyseal dysplasia is a rare autosomal dominant hereditary disorder, characterized by symmetrical progressive sclerosis of long bones cortical diaphysis. Its presentation and progression is extremely variable.
Joana, Almeida +2 more
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Camurati-Engelmann's disease. A case report.
Italian journal of orthopaedics and traumatology, 1989Camurati-Engelmann's syndrome is a rare congenital disease characterised by hyperostosis and sclerosis with a predilection for the long bones of the lower limbs. The authors report a case in an adult with a family history of the disease, and multiple localisations in the diaphyses of the long bones.
P, Raffaelli, M F, Ronzini
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