Allan-Herndon-Dudley syndrome.

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.

journal_name

Indian J Pediatr

authors

Verma S

subject

Has Abstract

pub_date

2008-04-01 00:00:00

pages

402-4

issue

4

eissn

0019-5456

issn

0973-7693

journal_volume

75

pub_type

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