Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON.
Pediatr Dermatol
; 37(3): 517-519, 2020 May.
Article
em En
| MEDLINE
| ID: mdl-32045494
ABSTRACT
Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a rare, severe, and recently described multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability, characteristic facial features, hypotonia, poor overall growth, and visual abnormalities. Mucocutaneous manifestations have not been reported so far among individuals with ZTTK syndrome. Herein, we present a patient with ZTTK syndrome due to a de novo mutation in SON gene, who has dental abnormalities and retronychia of the toenails. We suggest that mucocutaneous features may be a part of the phenotype.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deficiência Intelectual
/
Unhas Malformadas
Limite:
Humans
Idioma:
En
Revista:
Pediatr Dermatol
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Espanha