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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Simpson-Golabi-Behmel's syndrome is characterized by pre- and postnatal overgrowth, coarse face, visceromegali, congenital anomalies such as heart defects, diaphragmatic hernia and gastrointestinal malformations. Etiology is X-linked inheritance, the causative gene (GPC3) has recently been discovered. Female carriers may have mild symptoms. We report on an eight year old boy with characteristic anomalies and moderately retarded psychomotor development. Differentiating Simpson-Golabi-Behmel's syndrome and other overgrowth syndromes, such as Beckwith-Wiedemann's and Sotos' syndrome can be difficult. Clinical overlap and differences between these three conditions are discussed. The diagnosis of Simpson-Golabi-Behmel's syndrome is important because of increased risk for cardiac arrhytmias and for development of embryonal tumors such as neuroblastoma and Wilms' tumor in early childhood.
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PMID:[Simpson-Golabi-Behmel syndrome. A new overgrowth syndrome with increased risk of tumor development]. 961 82

Overgrowth syndromes are rare genetic disorders characterized by excessive pre- and postnatal growth accompanied by dysmorphic features and developmental disorders. In addition to other health hazards, the life expectancy of affected children may be compromised due to an increased risk of developing tumors. To demonstrate the need for early recognition, correct diagnostic evaluation and adequate follow-up, we present a family with recurrent Simpson-Golabi-Behmel syndrome (SGBS). SGBS is a X-linked neonatal overgrowth syndrome caused by mutations in the GPC3 or GPC4 genes. All three affected males manifested with congenital diaphragmatic hernia. When fetal overgrowth and congenital diaphragmatic hernia co-occur, the choice for a possible cause is limited among SGBS, Marfan syndrome and Pallister-Killian syndrome. Their different phenotypes allow clinical assessment and correct diagnosis in most cases and should be followed by genetic testing. Regular oncologic screening aimed towards early recognition of malignant tumors may improve long-term outcomes in SGBS as well as in all other overgrowth syndromes.
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PMID:For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome. 3037 Oct 35