Dentofacial manifestations in a child with Jalili syndrome.

Autor: Ravi M; Division of Pediatric and Preventive Dentistry, Centre for Dental Education and Research, All India Institute of Medical Sciences, New Delhi, India., Karthikeyan PD; Division of Pediatric and Preventive Dentistry, Centre for Dental Education and Research, All India Institute of Medical Sciences, New Delhi, India., Tewari N; Division of Pediatric and Preventive Dentistry, Centre for Dental Education and Research, All India Institute of Medical Sciences, New Delhi, India., Morankar R; Division of Pediatric and Preventive Dentistry, Centre for Dental Education and Research, All India Institute of Medical Sciences, New Delhi, India., Gupta AK; Department of Pediatrics (Genetics), ABVIMS DR RML Hopsital, BKS Marg, New Delhi, India., Nehta H; Division of Pediatric and Preventive Dentistry, Centre for Dental Education and Research, All India Institute of Medical Sciences, New Delhi, India., Raghuthaman S; Division of Pediatric and Preventive Dentistry, Centre for Dental Education and Research, All India Institute of Medical Sciences, New Delhi, India.
Jazyk: angličtina
Zdroj: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry [Spec Care Dentist] 2024 Jul-Aug; Vol. 44 (4), pp. 1026-1035. Date of Electronic Publication: 2023 Dec 27.
DOI: 10.1111/scd.12953
Abstrakt: 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.
(© 2023 Special Care Dentistry Association and Wiley Periodicals LLC.)
Databáze: MEDLINE
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