Aarskog-scott syndrome (AAS): a case report

Eur J Paediatr Dent. 2023 Sep 1;24(3):238 - 240. doi: 10.23804/ejpd.2023.1953. Epub 2023 Jun 1.

Abstract

Background: Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterised by facial dysmorphism, genital and limb anomalies as well as disproportionate acromelic short stature. Clinical diagnosis is based on physical examination and the presence of the most characteristic clinical signs. The diagnosis can be finally confirmed by molecular tests, which identify mutations in the FGD1 gene.

Case report: The report outlines the orthodontic treatment of a 6-year-old male patient, who was diagnosed with AAS syndrome. He presents all facial and oral clinical signs of this syndrome. The extent of maxillary hypoplasia and early dental crowding are so significant that immediate expansion therapy is required.

Conclusion: Dental management of patients with AAS syndrome represents a challenge for paediatric dentists. The key to improving a patient's aesthetic, functional and psychological condition is making the correct orthodontic decision.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Dwarfism* / diagnosis
  • Dwarfism* / genetics
  • Genitalia, Male / abnormalities
  • Guanine Nucleotide Exchange Factors* / genetics
  • Humans
  • Male
  • Mutation

Substances

  • Guanine Nucleotide Exchange Factors

Supplementary concepts

  • Aarskog Syndrome