Dentofacial manifestations in a child with Jalili syndrome

Mugilan Ravi; Pavithra Devi Karthikeyan; Nitesh Tewari; Rahul Morankar; Amit Kumar Gupta; Hemlata Nehta; Sruthila Raghuthaman

doi:10.1111/scd.12953

Dentofacial manifestations in a child with Jalili syndrome

Spec Care Dentist. 2023 Dec 27. doi: 10.1111/scd.12953. Online ahead of print.

Authors

Mugilan Ravi¹, Pavithra Devi Karthikeyan¹, Nitesh Tewari¹, Rahul Morankar¹, Amit Kumar Gupta², Hemlata Nehta¹, Sruthila Raghuthaman¹

Affiliations

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.

PMID: 38151709
DOI: 10.1111/scd.12953

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.

Keywords: Jalili syndrome; amelogenesis imperfecta; cone-rod dystrophy; oral manifestations; root resorption.

Publication types

Case Reports