title: A novel mutation in a mother and a son with Aarskog-Scott syndrome.
abstract: Aarskog-Scott syndrome, also termed as faciogenital dysplasia, is an X-linked disorder consisting of short stature, craniofacial dysmorphism, shawl scrotum, cryptorchidism, and interdigital webbing. Cardiac and central nervous system abnormalities and behavioral disorders can also be detected. The gene responsible for the syndrome is called FGD1, located at Xp11.21. A 7-year-old boy was admitted to our hospital due to short stature. He was born to non-consanguineous parents after an uneventful term pregnancy. Orchiopexy for bilateral cryptorchidism was performed when he was 2 years old. At physical examination, his height was under 3 percentile, and he had broad nasal bridge, hypertelorism, wide philtrum, brachydactyly, and interdigital webbing. Cranial magnetic resonance imaging and echocardiography revealed normal findings. An eye examination showed amblyopia and astigmatism. The mother had short stature and interdigital webbing as well. Mutational analyses revealed a novel mutation (c.308-2G), hemizygous in the boy and heterozygous in the mother. Aarskog syndrome (faciogenital dysplasia) should be kept in mind in children with short stature and interdigital webbing.
authors: Department of Pediatrics, Dokuz Eylül Universitesi Tip Fakültesi Cocuk Hastanesi Inciralti, Izmir, Turkey. ayca.altincik@deu.edu.tr
authors: Ayça
authors: A
authors: Altıncık
authors: Tadashi
authors: T
authors: Kaname
authors: Korcan
authors: K
authors: Demir
authors: Ece
authors: E
authors: Böber
mesh_terms: D000328:Adult; D001827:Body Height / Q000235:genetics; D002648:Child; D004392:Dwarfism / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D005837:Genitalia, Male / Q000002:abnormalities; D006130:Growth Disorders / Q000235:genetics*; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D009035:Mothers; D009679:Nuclear Family; D017354:Point Mutation / Q000235:genetics*
chemical_list: C490796:FGD1 protein, human; D020662:Guanine Nucleotide Exchange Factors