Journal of Clinical and Translational Endocrinology Case ReportsThis is a report of the first case of Progressive Diaphyseal Dysplasia (PDD) with molecular diagnosis in Mexico. Is a 35-year-old woman with a medical history of stabilization of the dorsal spine for correcting scoliosis at eight years.
De la Torre-Saldaña Viridiana Abigahy +3 more
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Skeletal Dysplasia Presenting as a Neuromuscular Disorder - Report of a Family with Camurati-Engelmann Syndrome. [PDF]
Maedica (Bucur), 2015 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.
Plaiasu V, Costin A.
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Clinical Characteristics and the Influence of rs1800470 in Patients With Camurati-Engelmann Disease [PDF]
Frontiers in Endocrinology, 2022 Weibo Xia, Xiaoping Xing, Hanting Liang
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Camurati-Engelmann Disease Complicated by Hypopituitarism: Management Challenges and Literature Review of Outcomes With Bisphosphonates [PDF]
AACE Clinical Case Reports, 2022 Pinaki Dutta +2 more
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Identification of a Novel TGFB1 Variant in a Patient With Camurati-Engelmann Disease Responsive to Alendronate [PDF]
RheumatologyCelia Gregson +2 more
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The Role of Mutations on Gene TGFB1 in Camurati Engelmann Syndrome
International Journal of Cancer Research & Therapy, 2021 Camurati-Engelmann disease (CED) is characterized by increased bone density primarily affecting the long bones of the arms and legs and the skull. The thickening of these bones leads to pain, a waddling gait, muscle weakness, and extreme fatigue. Increased density of the skull can cause a variety of neurological deficits such as headaches, hearing loss,
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Diagnosing Camurati-Engelmann disease-the age of whole-exome sequencing. [PDF]
Rheumatology (Oxford), 2023 Nagra D +6 more
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Camurati-Engelmann Disease: A Case-Based Review About an Ultrarare Bone Dysplasia. [PDF]
Eur J Rheumatol, 2023 Klemm P, Aykara I, Lange U.
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A new case of Melnick-Needles syndrome with skeletal manifestations: A case report. [PDF]
Int J Surg Case Rep, 2023 Zargarbashi R +3 more
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