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Abstract
Background:Lacrimo-auriculo-dento-digital (LADD) syndrome is a rare autosomal dominant developmental disorder characterized by multisystem anomalies involving the lacrimal apparatus, salivary glands, dentition, auricular structures, and distal limbs. It is associated with pathogenic variants in fibroblast growth factor (FGF) signaling pathway genes, including FGF10, FGFR3, and FGFR2. Clinical expression is highly variable, and severe phenotypes remain uncommon. Case Presentation: We report a 2-year-old male presenting with congenital xerostomia, feeding difficulties, hypodontia, and rapidly progressive early childhood caries. Clinical examination revealed craniofacial dysmorphism, auricular anomalies, and multiple digital malformations. Ultrasonographic evaluation demonstrated complete absence of the parotid, submandibular, and sublingual glands, consistent with total salivary gland agenesis. Genetic analysis identified a heterozygous de novo missense variant in FGFR2 (NM_000141.5:c.1991G>A; p.Arg664Gln), classified as likely pathogenic and consistent with LADD syndrome. The patient underwent early preventive and restorative dental management. Conclusion: This case expands the phenotypic spectrum of LADD syndrome by documenting a rare presentation with complete salivary gland agenesis and a de novo FGFR2 variant. It highlights the critical role of early diagnosis through integrated clinical, radiological, and genetic assessment, as well as the importance of intensive preventive dental strategies in reducing long-term oral morbidity and improving quality of life.
