| Title | Allan-Herndon-Dudley syndrome. | | Author(s) | Verma S | | Institution | Department of Pediatrics, University College of Medical Science and Guru Teg Bahadur Hospital, Delhi, India. Sanjay6verma@yahoo.com | | Source | Indian J Pediatr 2008 Apr; 75(4):402-4. | | Abstract | 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. | | Language | eng | | Pub Type(s) | Journal Article
| | PubMed ID | 18589880 |
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