الرئيسية » أرشيف الوسم : faciogenital dysplasia

أرشيف الوسم : faciogenital dysplasia

Aarskog–Scott syndrome

Aarskog–Scott syndrome or Aarskog syndrome or faciogenital dysplasia an extremely rare genetically heterogeneous developmental disorder in which individuals have widely spaced eyes, anteverted nostrils, a broad upper lip and a ‘saddlebag’ or ‘shawl scrotum’. The X-linked form has been ascribed to mutations in the FGD1 gene. [After Dagfinn Aarskog (1928– ), Norwegian paediatrician, and Charles I. Scott Jr (1934– ), …

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