Results 21 to 30 of about 1,245,546 (143)

Angioid streaks in a case of Camurati-Engelmann disease. [PDF]

Indian J Ophthalmol, 2017
Camurati–Engelmann disease (CED) is a rare autosomal dominant disease with various phenotypic expressions. The hallmark of the disease is bilateral symmetric diaphyseal hyperostosis of the long bones with progressive involvement of the metaphysis. Ocular
Tugcu BL, Sezer T, Elbay A, Özdemir H.
europepmc   +2 more sources

A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia

BioMed Research International, Volume 2021, Issue 1, 2021., 2021
Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia with an estimated incidence of ~1/60000 that is characterized by disproportionate short stature, brachydactyly, joint laxity, and early‐onset osteoarthritis. COMP encodes the cartilage oligomeric matrix protein, which is expressed predominantly in the extracellular matrix (ECM ...
Bing-Bing Guo, Jie-Yuan Jin, Zhuang-Zhuang Yuan, Lei Zeng, Rong Xiang, Burak Durmaz   +5 more
wiley   +1 more source

A new LRP6 variant and Camurati-Engelmann-like disease

, 2021
International audienceIntroduction: Camurati-Engelmann disease is a rare autosomal dominant bone dysplasia belonging to the group of craniotubular hyperostoses.
Chapurlat, Roland, Feurer, Elodie, Ltaief-Boudrigua, Aicha, Pickering, Marie-Eva, Collet, Corinne   +4 more
core   +1 more source

Camurati-Engelmann disease [PDF]

, 2011
Camurati-Engelmann disease (CED), or progressive diaphyseal dysplasia, is a rare sclerosing dysplasia of which 250 cases have been described in the English literature.
Georg Wagener, Neil Bellew
core   +1 more source

Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients

Molecular Genetics &Genomic Medicine, Volume 8, Issue 5, May 2020., 2020
Our study achieved a diagnostic yield from WES of 26% (13/50). These cases were diagnostically challenging as prior investigations failed to give clues on specific genetic diagnosis. Our findings are compatible to previous studies observing the diagnostic yield tends to be lower in cohorts that have already undergone prior extensive evaluations ...
Mandy H. Y. Tsang, Annie T. G. Chiu, Bernard M. H. Kwong, Rui Liang, Mullin H. C. Yu, Kit‐San Yeung, Wetor H. L. Ho, Christopher C. Y. Mak, Gordon K. C. Leung, Steven L. C. Pei, Jasmine L. F. Fung, Virginia C. N. Wong, Francesco Muntoni, Brian H. Y. Chung, Sophelia H. S. Chan   +14 more
wiley   +1 more source

Camurati-Engelmann disease : pictorial essay [PDF]

, 2011
Camurati-Engelmann disease (CED), or progressive diaphyseal dysplasia, is a rare sclerosing dysplasia of which 250 cases have been described in the English literature.
Bellew, Neil, Wagener, Georg
core   +1 more source

Elimination of Pain and Improvement of Exercise Capacity in Camurati-Engelmann Disease With Losartan [PDF]

, 2020
Background: Camurati-Engelmann disease (CED) is a rare disorder, with approximately 250 described cases in the literature.
José G B Derraik, P L H ), Liggins Institute, A A, W S C, Wayne S Cutfield, J G B D, Paul L Hofman, Ahila Ayyavoo   +8 more
core  

Camurati-Engelmann disease

, 2022
Introducción: La enfermedad de Camurati-Engelmann es una displasia ósea esclerosante autosómica dominante, se estima en 1:1,000,000 de personas, con aproximadamente 300 casos reportados en el mundo.
Arturo Terranova, Daniela, Satizábal Soto, José María, Ramírez Ramírez, Stephany, Moreno Giraldo, Lina Johanna   +3 more
core   +1 more source

Century Sardinia (Italy): A Possible Case of Camurati–Engelmann Disease

, 2016
The skeletal remains of a male aged 45–55 years displaying several bone anomalies were unearthed from the Alghero (Sardinia) plague cemetery ‘lo Quarter’, a burial site dating back to the 1582–1583 AD outbreak.
MONTELLA, Andrea Costantino Mario, R. Bianucci, Gino Fornaciari, Tognotti Eugenia, D. Caramella, P. Bandiera, Bianucci Raffaella, MILANESE, Marco, A. Montella, M. Milanese, E. Tognotti, Caramella Davide, G. Fornaciari, BANDIERA, Pasquale, Giuffra Valentina, V. Giuffra   +15 more
core   +2 more sources

Camurati-Engelmann disease: case report

, 2009
Objetivos: Fornecer informações sobre a doença de Camurati-Engelmann, também conhecida como Displasia Diafisária Progressiva, possibilitando o seu diagnóstico pelo profissional de saúde. Método: Relato de caso associado a revisão da literatura científica
Yamada, Eliane Sayuri, Fernandes, Gisele Cristine Dyonísio, Toledo, Roberto Acayaba de, Souza, Daniela Lima de, Sunahara, Érika Renata Motinaga, Menin, Rita de Cássia   +5 more
core   +1 more source