Osteopathia striata cranial sclerosis

Common Name(s)

Osteopathia striata cranial sclerosis

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Osteopathia striata cranial sclerosis" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Osteopathia striata cranial sclerosis" returned 5 free, full-text research articles on human participants. First 3 results:

[Osteopathia striata with cranial sclerosis].
 

Author(s): D Vicente Mérida, F J Rodríguez Recio, M Garrido Blázquez, J Pereda Rodríguez

Journal: Radiologia. ;53(6):564-7.

 

Osteopathia striata with cranial sclerosis is a rare disease: fewer than 100 cases have been reported. The radiologic findings of osteopathia striata are characteristic, and once they are identified, they lead to the correct diagnosis. Longitudinal sclerotic striation in long bones ...

Last Updated: 31 Dec 1969

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[Osteopathia striata with cranial sclerosis].
 

Author(s): Mafalda Barbosa, Bram Perdu, Virgílio Senra, Filipe Macedo, Wim Van Hul, Margarida Reis-Lima, Jorge Pinto-Basto

Journal: Acta Med Port. ;23(6):1147-50.

 

We report on a female patient who presented failure to thrive, laryngotracheomalacia, conductive deafness and facial dysmorphisms. A skeletal survey revealed thickening of the cranial vault, linear striations in the diametaphyses of all long bones and fan-like striations of the iliac ...

Last Updated: 31 Dec 1969

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Osteopathia striata with cranial sclerosis owing to WTX gene defect.
 

Author(s): Bram Perdu, Fenna de Freitas, Suzanne G M Frints, Meyke Schouten, Connie Schrander-Stumpel, Mafalda Barbosa, Jorge Pinto-Basto, Margarida Reis-Lima, Marie-Christine de Vernejoul, Kristin Becker, Marie-Louise Freckmann, Kathlijn Keymolen, Eric Haan, Ravi Savarirayan, Rainer Koenig, Bernhard Zabel, Filip M Vanhoenacker, Wim Van Hul

Journal: J. Bone Miner. Res.. 2010 Jan;25(1):82-90.

 

Osteopathia striata with cranial sclerosis (OSCS) is an X-linked dominant condition marked by linear striations mainly affecting the metaphyseal region of the long bones and pelvis in combination with cranial sclerosis. Recently, the disease-causing gene was identified as the WTX ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Osteopathia striata cranial sclerosis" returned 1 free, full-text review articles on human participants. First 3 results:

WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features.
 

Author(s): Anna Maria Zicari, Luigi Tarani, Daniela Perotti, Laura Papetti, Francesco Nicita, Natascia Liberati, Alberto Spalice, Guglielmo Salvatori, Federica Guaraldi, Marzia Duse

Journal:

 

Osteopathia striata with cranial sclerosis (OS-CS) or Horan-Beighton syndrome is a rare X-linked dominant inherited bone dysplasia, characterized by longitudinal striations of long bones and cranial sclerosis. Patients can be asymptomatic or present with typical facial dysmorphism, ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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