Dentofacial manifestations in a child with Jalili syndrome.
Spec Care Dentist
; 44(4): 1026-1035, 2024.
Article
em En
| MEDLINE
| ID: mdl-38151709
ABSTRACT
Jalili syndrome (JS) (MIM#217080) is a rare autosomal recessive disorder with oculo-dental malformations. The clinical phenotype is characterized by the presence of Cone-Rod Dystrophy (CRD) and Amelogenesis Imperfecta (AI). Genetic mechanism entails a mutation in the CNNM4, a metal transporter gene located on Chromosome 2q11.2. A high fluoride concentration in groundwater has also been identified as an epigenetic factor in this syndrome. JS draws the attention of dentists due to its distinct oral manifestations. To the best of our knowledge, this is the first genetically confirmed pediatric case report from the Indian subcontinent emphasizing the clinical and radiographic features of this condition and its management in a 6-year-old child.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Amelogênese Imperfeita
Limite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Spec Care Dentist
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Índia