Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child
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چکیده
منابع مشابه
Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child.
Shprintzen-Goldberg syndrome (S-G) is a rare connective tissue disorder characterised by craniosynostosis, craniofacial dysmorphism, skeletal, cardiovascular, neurological, and other abnormalities. We herein present a case of a five-year-old Indian child who presented to our clinic with reducible umbilical hernia since birth, mental retardation, and delayed developmental milestones. After metic...
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Shprintzen-Goldberg Syndrome is an extremely infrequent disorder of connective tissue, characterized by craniosynostosis and marfanoid features, also known as Marfanoid Craniosynostosis syndrome. The syndrome was first introduced by Sugarman and Vogel' (1981) however, Shprintzen and Goldberg established this as a separate clinical entity in the year 1982. Since then, approximately sixty such ca...
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Goldberg-Shprintzen syndrome (GOSHS, MIM #609460) is an autosomal recessive disorder of intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). In 2005, homozygosity mapping in a large consanguineous family identified KIAA1279 as the disease-causing gene. KIAA1279 encodes KIF-binding protein (KBP), whose function is incompletely understood. Studies have identified ei...
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Foreign body ingestion is common in children. Sharp foreign bodies are potentially harmful and can result various complications. An 8-month-old infant presented with incarcerated umbilical hernia. With a suspicion of strangulation, operation was performed that revealed a loop of ileum being stuck in the umbilical defect. The loop of ileum was freed from the umbilicus which demonstrated open end...
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ژورنال
عنوان ژورنال: Australasian Medical Journal
سال: 2014
ISSN: 1836-1935
DOI: 10.21767/amj.2014.1888