{"id":12966,"date":"2024-08-23T07:30:20","date_gmt":"2024-08-23T05:30:20","guid":{"rendered":"https:\/\/valintermed.com\/?p=12966"},"modified":"2024-08-23T07:30:20","modified_gmt":"2024-08-23T05:30:20","slug":"sindrom-simpsona-golabi-bemelya","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/simpson-s-syndrome\/","title":{"rendered":"Simpson-Golabi-Bemel syndrome"},"content":{"rendered":"
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Simpson-Golabi-Bemel syndrome (GBS) is a rare inherited disorder that refers to a group of malformations characterized by a combination of abnormalities in the development of the limbs, skull, and other organ systems. The disorder is caused by mutations in genes that regulate the formation and development of embryonic tissues. Clinical manifestations of the syndrome range from mild deformities to severe abnormalities, including the presence of extra digits or limbs, as well as underdevelopment of various organs. Patients with this syndrome may also experience neurological complications, including mental retardation. An important aspect of GBS is its genetic nature, which emphasizes the need for proper diagnosis and identification of both predisposing genetic factors and appropriate treatment methods.<\/p>\n

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