This paper reports the treatment and 12-year follow-up of a patient 7 years old who had been diagnosed with Aarskog-Scott syndrome. The patient had a history of premature multiple tooth loss, vertical dimension loss and severe dentoalveolar discrepancy. Orthopedic and orthodontic rehabilitation treatments were performed to improve the patient's esthetic, functional and psychological condition. How to cite this article: Closs LQ, Tovo M, Dias C, Corradi DP, Vargas IA. Aarskog-Scott Syndrome: A Review and Case Report. Int J Clin Pediatr Dent 2012;5(3):209-212.
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http://dx.doi.org/10.5005/jp-journals-10005-1168 | DOI Listing |
J Med Genet
January 2025
Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.
View Article and Find Full Text PDFEur J Pediatr
May 2024
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, People's Republic of China.
Patients with Aarskog-Scott syndrome (AAS) have short stature, facial anomalies, skeletal deformities, and genitourinary malformations. FYVE, RhoGEF, and PH domain-containing 1 (FGD1) is the only known causative gene of AAS. However, the diagnosis of AAS remains difficult, and specific treatments are still absent.
View Article and Find Full Text PDFClin Pediatr Endocrinol
January 2024
Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan.
Int J Gynaecol Obstet
May 2024
Neonatal Intensive Care Unit, Women's and Children's Health Department, University Hospital of Modena, Modena, Italy.
J Clin Exp Dent
July 2023
DDS, MSc, PhD. Department of Oral Sciences, School of Dentistry, Evangelical University of Goiás, Anápolis, Brazil.
Aarskog-Scott syndrome (AAS) is characterized by different facial, skeletal and genital anomalies and may have oral manifestations. A 7-year-old boy was referred to the University General Hospital for treatment of speech difficulties and frequent regurgitation. Characteristics such as a triangle-shaped face, hypertelorism, low-set ears, flattened nose, shawl scrotum and partial syndactylia on hands and feet were observed.
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