Abstract
Authors represent bibliographical review and a clinical case report of Shprintzen-Goldberg syndrome (SGS) in an infant. SGS is a rare genetic disease that has been poorly studied and is of a practical and scientific interest due to the difficulty of its diagnosis, a fairly complex description of the phenotype and clinical polymorphism of manifestations. The purpose for publishing of this particular case report was to familiarize pediatric practitioners with this rare hereditary syndrome since there are no consensual clinical guidelines for the management of patients with SGS as yet. Identification of hereditary diseases accompanied by disruption of the structure and function of the musculoskeletal, cardiovascular and nervous systems would allow determining a more accurate plan for managing of a pediatric patient as well as establishing a possible prognosis for the patient’s further development, which is the number one problem considered by both parents/caregivers and physicians.
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