Unilateral hemicraniectomy with titanium cranioplasty for the treatment of high intracranial pressure in a pediatric patient with Camurati-Engelmann disease: illustrative case [PDF]
BACKGROUND Camurati-Engelmann disease (CED) is an extremely rare autosomal dominant genetic disorder that can cause increased intracranial pressure (ICP) secondary to cranial hyperostosis, which decreases intracranial volume.
Guillen-Arguello, Roboan +2 more
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Camurati-Engelmann Disease in a Family from Croatian Island: An Old Bone Scan Confirmed Pattern of Inheritance [PDF]
, 2014 34-year old patient had history of muscular wasting, easy fatigability, pain in extremities and waddling gait since age of four. During the time, neuromuscular disease was suspected, but not confirmed.
Baretić, Maja +4 more
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A rare combination of endocrinopathies associated with Camurati-Engelmann disease.
, 2013 A case report of a patient with the rare autosomal dominant Camurati-Engelmann Disease (CED) associated with primary hypothyroidism, hypogonadotrophic hypogonadism and central diabetes insipidus is discussed.
Kamaruddin, Nor Azmi +4 more
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, 2011 Progressive diaphyseal dysplasia, also known as Camurati-Engelmann disease (CED), is a rare autosomal dominant bone disorder caused by mutations in the transforming growth factor beta 1 (TGF-β1) gene and characterized by cortical thickening of the ...
Zamberlan, Silvia +6 more
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A case of sclerosing bone dysplasia from 16th century Sardinia: Camurati-Engelmann disease? [PDF]
, 2019 The skeletal remains of a male aged 45-55 years displaying several bone anomalies were unearthed from the Alghero plague cemetery “lo Quarter”, a burial site dating back to the 1582-1583 AD outbreak.
CARAMELLA D, MILANESE M., GIUFFRA V
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Abstracts from the Bone and Muscle Interactions: The Mechanical and Beyond Meeting August 2019
, 2019 JBMR Plus, Volume 3, Issue S4, December 2019.
wiley +1 more source
Camurati-Engelmann disease in a family from Croatian Island: an old bone scan confirmed pattern of inheritance [Camurati-Englemannova bolest u obitelji s Hrvatskog otoka: stara snimka kostiju potvrdila je obrazac nasljeđivanja] [PDF]
, 2014 34-year old patient had history of muscular wasting, easy fatigability, pain in extremities and waddling gait since age of four. During the time, neuromuscular disease was suspected, but not confirmed.
Baretić, Maja +4 more
core +1 more source
Camurati-engelmann disease. Effects of corticosteroids
, 1998 Camurati-Engelmann disease is an uncommon condition, radiologically characterized by symmetric diaphyseal sclerosis involving the tubular bones. Clinical features include limb pain, muscle weakness, waddling gait and sometimes deafness. The evaluation is
Gebhart, Michaël +3 more
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, 2003 : Transforming growth factor-beta1 (TGF-beta1) is secreted as a latent precursor, consisting of a homodimer of the latency-associated peptide and the mature peptide.
Janssens, Katrien +4 more
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, 2010 Ribbing disease is a rare sclerosing dysplasia that involves long tubular bones, especially the tibia and femur. It occurs after puberty and is reported to be more common in women.
Philson J Mukkada +3 more
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