Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome.
Pediatr Dermatol
; 39(4): 590-593, 2022 Jul.
Article
em En
| MEDLINE
| ID: mdl-35304779
ABSTRACT
Neonatal ichthyosis and sclerosing cholangitis (NISCH) syndrome is an extremely rare entity with only 19 patients described in the literature. We report an extended family with the disorder and investigate the association of neurodevelopmental symptoms. Patients with CLDN1 mutations, and specifically « the Moroccan¼ c.200_201delTT deletion, may be an increased risk for neurodevelopmental symptoms such as learning disabilities, mental retardation, and language delay.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Colangite Esclerosante
/
Ictiose Lamelar
/
Ictiose
/
Transtornos Leucocíticos
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Newborn
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article