{"id":12827,"date":"2024-09-17T21:42:18","date_gmt":"2024-09-17T19:42:18","guid":{"rendered":"https:\/\/valintermed.com\/?p=12827"},"modified":"2024-09-17T21:42:18","modified_gmt":"2024-09-17T19:42:18","slug":"sindrom-robertsa","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/robert-s-syndrome\/","title":{"rendered":"Roberts syndrome"},"content":{"rendered":"
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Roberts syndrome (or Roberts-Gorshun syndrome) is a rare genetic disorder characterized by multiple developmental defects, including limb and facial skeletal abnormalities. Atypical limb formation may include shortening, underdevelopment, or absence of individual fingers and phalanges, as well as the presence of limb fragments. Patients may also have various anomalies of internal organs, including heart, kidney, and lung defects. The syndrome was first described in 1984, and today it is known that it is congenital in nature, associated with mutations in certain genes. The pathology is also considered chromosomal and can be inherited in an autosomal recessive manner, which makes its study an important part of medical genetics and pediatrics.<\/p>\n

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