Ladd Syndrome With Multiple Dental Abnormalities: A Case Report

Lacrimo-auriculo-dento-digital (LADD) syndrome, a rare autosomal dominant disease, possesses typical clinical symptoms including lacrimal system hypoplasia, ear malformations, dental dysplasia, deficiency of salivary glands and digital limb abnormalities. The aetiology, symptoms and treatments of LADD syndrome require in-depth exploration. A 6-year-old boy, was admitted with multiple retained primary teeth. Clinical examination revealed that the patient had rampant caries, multiple dental abnormalities including oligodontia, microdontia, and retained deciduous teeth, dysplasia of lacrimal and salivary glands, cup-shaped small ears, and curved digits. The genetic analysis revealed a novel heterozygous missense mutation in exon 7 of FGFR2: NM_000141.4:c.1543G>A. Two additional mutations were found, including COL11A1 and MYO7A. The complex dental treatment planning was developed, including cavity fillings, endodontic treatments, stainless steel crown, and orthodontic-prosthetic therapy. Artificial saliva and tears were employed for relieving the symptoms of dryness. The restorative primary teeth had no symptoms, and successive permanent teeth erupted normally after a 5-year follow-up. This case provided more information for clinical examination, diagnosis and treatment of LADD syndrome. It is noticeable for pediatric dentist that dental abnormalities may indicate systemic disorders, which is requisite for early diagnosis and treatment. Multidisciplinary long-term treatment plans are critical for the patient’s oral function and aesthetics. Furthermore, the genetic analysis provides decisive evidence for accurate diagnosis of systemic disease with dental abnormalities. This case reported that LADD syndrome with multiple dental abnormalities is caused by de novo mutation In FGFR2 Gene.