Dentofacial manifestations in a child with Jalili syndrome
Mugilan Ravi,
Pavithra Devi Karthikeyan,
Nitesh Tewari
et al.
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 manifestation… Show more
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