A novel mutation in a mother and a son with Aarskog-Scott syndrome

Altincik A., Kaname T., DEMİR K., BÖBER E.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.26, pp.385-388, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 26
  • Publication Date: 2013
  • Doi Number: 10.1515/jpem-2012-0233
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.385-388
  • Keywords: Aarskog-Scott syndrome, interdigital webbing, short stature, GROWTH-HORMONE TREATMENT, FGD1 GENE, EXPRESSION, DISORDERS, DEFECTS
  • Dokuz Eylül University Affiliated: Yes


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.