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Aarskog-scott syndrome (AAS): a case report.

F Braiotta¹, M Paglia¹, S Mummolo²

¹Department of Maternal and Paediatric dentistry, Italian Stomatological Institute, Milan, Italy.

European Journal of Paediatric Dentistry

|June 20, 2023

Summary

Aarskog-Scott syndrome (AAS) is a rare genetic disorder. This case report details the orthodontic treatment of a young male patient with AAS, highlighting the need for early intervention to address significant dental crowding and maxillary hypoplasia.

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Area of Science:

Genetics and Developmental Biology
Pediatric Dentistry
Orthodontics

Background:

Aarskog-Scott syndrome (AAS) is a rare genetic disorder characterized by distinct facial, genital, and limb anomalies, along with disproportionate short stature.
Diagnosis is typically based on clinical examination and confirmed by molecular identification of FGD1 gene mutations.

Observation:

A 6-year-old male patient diagnosed with AAS presented with characteristic facial and oral manifestations.
Significant maxillary hypoplasia and early dental crowding were observed, necessitating immediate orthodontic intervention.

Findings:

The case highlights the complex dental management required for AAS patients.
Early and decisive orthodontic treatment, including expansion therapy, is crucial for addressing severe maxillary hypoplasia and dental crowding.

Implications:

Effective orthodontic management can significantly improve the aesthetic, functional, and psychological well-being of patients with AAS.
This case underscores the importance of timely orthodontic decisions in managing complex pediatric dental cases associated with genetic syndromes.