Dentofacial manifestations in a child with Jalili syndrome

Author:

Ravi Mugilan1ORCID,Karthikeyan Pavithra Devi1ORCID,Tewari Nitesh1ORCID,Morankar Rahul1ORCID,Gupta Amit Kumar2,Nehta Hemlata1,Raghuthaman Sruthila1

Affiliation:

1. Division of Pediatric and Preventive Dentistry, Centre for Dental Education and Research All India Institute of Medical Sciences New Delhi India

2. Department of Pediatrics (Genetics), ABVIMS DR RML Hopsital BKS Marg New Delhi India

Abstract

ABSTRACTJalili 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.

Publisher

Wiley

Subject

General Dentistry

Reference27 articles.

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4. Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta

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