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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.

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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.

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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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