Aarskog-Scott Syndrome (AAS)
摘要
Aarskog-Scott syndrome (FGDY), also known as facio-genital dysplasia, is a rare x-linked genetic disorder mostly affecting males (Bayat et al.; Zanetti Drumond et al.). FGDY was initially described by Aarskog et al. in 1970 as facio-digital-genital dysplasia and after that, Scott et al. introduced the Aarskog-Scott syndrome (Depeyre et al.). With less than 100 known cases and an estimated prevalence of 1/1000000 to 1/25000, this rare syndrome is caused by FGD1 gene mutation located on Xp11.21(Ahmed et al.; Calabrese et al.; Depeyre et al.). FGDY is associated with a variety of developmental abnormalities, including craniofacial dysmorphism, short stature, genital abnormalities, and behavioral disorders, many of which are revealed during the first decade of the patients life (Griffin et al.; Hamzeh et al.; Parıltay et al.).