| Allan-Herndon-Dudley syndrome. | |
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MedLine Citation:
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PMID: 18589880 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Allan-Herndon-Dudley Syndrome (AHDS) is a rare X-linked disorder caused by mutation in the gene encoding the monocarboxylate transporter-8. Abnormal transport function is reflected by elevated free T3 and decreased free T4 levels along with clinical features characterized by neurological abnormalities including global developmental delay, central hypotonia, rotatory nystagmus, impaired hearing, spasticity and contractures of joints. We report a child with classical clinical features along with confirmatory deranged thyroid levels in blood. |
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Authors:
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Sanjay Verma |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Indian journal of pediatrics Volume: 75 ISSN: 0973-7693 ISO Abbreviation: Indian J Pediatr Publication Date: 2008 Apr |
Date Detail:
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Created Date: 2008-06-27 Completed Date: 2008-08-22 Revised Date: 2009-07-15 |
Medline Journal Info:
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Nlm Unique ID: 0417442 Medline TA: Indian J Pediatr Country: India |
Other Details:
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Languages: eng Pagination: 402-4 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, University College of Medical Science and Guru Teg Bahadur Hospital, Delhi, India. Sanjay6verma@yahoo.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis* Child Developmental Disabilities / diagnosis Humans Male Mental Retardation, X-Linked / diagnosis* Monocarboxylic Acid Transporters / genetics* Muscle Hypotonia / genetics, physiopathology Prognosis Syndrome Thyroid Hormones / metabolism* |
| Chemical | |
Reg. No./Substance:
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0/Monocarboxylic Acid Transporters; 0/Thyroid Hormones |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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