Allan-Herndon-Dudley syndrome.
Indian J Pediatr
;
2008 Apr; 75(4): 402-4
Artículo
en Inglés
| IMSEAR
| ID: sea-80078
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.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Pronóstico
/
Síndrome
/
Hormonas Tiroideas
/
Anomalías Múltiples
/
Humanos
/
Masculino
/
Niño
/
Discapacidades del Desarrollo
/
Transportadores de Ácidos Monocarboxílicos
/
Discapacidad Intelectual Ligada al Cromosoma X
Tipo de estudio:
Estudio pronóstico
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
2008
Tipo del documento:
Artículo
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