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Pontine tegmental cap dysplasia
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Overview
Pontine tegmental cap dysplasia (PTCD) is a non-progressive disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.[1] 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.[2] To date, the condition has been identified in less than 20 patients.[3]
References
- What is pontine tegmental cap dysplaisa?. UW Hindbrain Malformation Research Program. http://depts.washington.edu/joubert/pontinetegmentalcapdysplasia.php. Accessed April 26, 2012.
- Briguglio M, Pinelli L, Giordano L, et al. Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients. Orphanet J Rare Dis. 2011. http://www.ncbi.nlm.nih.gov/pubmed/21651769. Accessed April 26, 2012.
- Desai N, Young L, Miranda M., et al . Pontine tegmental cap dysplasia: the neurotologic perspective. Otolaryngology Head and Neck Surgery. 2011. http://www.ncbi.nlm.nih.gov/pubmed/21705787. Accessed April 26, 2012.
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General Information
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Pontine tegmental cap dysplasia. Click on the link to view a sample search on this topic.
- The University of Washington's hindbrain malformation research program has more information on this condition. Click on the link to read information on this topic.