Pontine tegmental cap dysplasia

Common Name(s)

Pontine tegmental cap dysplasia

Pontine tegmental cap dysplasia (PTCD) is a non-progressive disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.  Individuals with PTCD may have a collection of medical and devlopmental problems including: hearing impairment, ataxia, language and speech disorders, feeding and swallowing difficulties, heart malformations and facial paralysis. The cause of this condition is unknown.The severity of the medical problems varies among patients. Some patients have a good long-term prognosis with normal intelligence and partial speech.  To date, the condition has been identified in less than 20 patients.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pontine tegmental cap dysplasia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Pontine tegmental cap dysplasia" returned 3 free, full-text research articles on human participants. First 3 results:

Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients.
 

Author(s): Marilena Briguglio, Lorenzo Pinelli, Lucio Giordano, Alessandro Ferraris, Eva Germanò, Serena Micheletti, Mariasavina Severino, Laura Bernardini, Sara Loddo, Gaetano Tortorella, Francesca Ormitti, Roberto Gasparotti, , Andrea Rossi, Enza Maria Valente

Journal:

 

Pontine Tegmental Cap Dysplasia (PTCD) is a recently described, rare disorder characterized by a peculiar cerebellar and brainstem malformation. Nineteen patients have been reported to date, of which only one in the adolescent age, and data on the clinical, cognitive and behavioural ...

Last Updated: 27 Jun 2011

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Pontine tegmental cap dysplasia: MR imaging and diffusion tensor imaging features of impaired axonal navigation.
 

Author(s): P Jissendi-Tchofo, D Doherty, G McGillivray, R Hevner, D Shaw, G Ishak, R Leventer, A J Barkovich

Journal: AJNR Am J Neuroradiol. 2009 Jan;30(1):113-9.

 

Malformations of the brain stem are uncommon. We present MR imaging and diffusion tensor imaging (DTI) features of 6 patients with pontine tegmental cap dysplasia, characterized by ventral pontine hypoplasia and a dorsal "bump," and speculate on potential mechanisms by which it forms.

Last Updated: 13 Jan 2009

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Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance.
 

Author(s): Peter G Barth, Charles B Majoie, Matthan W A Caan, Marian A J Weterman, Marten Kyllerman, Leo M E Smit, Richard A Kaplan, Richard H Haas, Frank Baas, Jan-Maarten Cobben, Bwee Tien Poll-The

Journal: Brain. 2007 Sep;130(Pt 9):2258-66.

 

Four unrelated children are described with an identical brainstem and cerebellar malformation on MRI. The key findings are: vermal hypoplasia, subtotal absence of middle cerebellar peduncles, flattened ventral pons, vaulted pontine tegmentum, molar tooth aspect of the pontomesencephalic ...

Last Updated: 22 Aug 2007

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Reviews from the PubMed Database

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The terms "Pontine tegmental cap dysplasia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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