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Disease: Shprintzen omphalocele syndrome

  • A microdeletion 22q11.2 can resemble Shprintzen-Goldberg omphalocele syndrome
  • Anesthetic management of a rare case of Shprintzen-Goldberg craniosynostosis syndrome
  • Dysmorphic facies, omphalocele, laryngeal and pharyngeal hypoplasia, spinal anomalies, and learning disabilities in a new dominant malformation syndrome
  • Pharynx/larynx hypoplasia-omphalocele, Shprintzen-Goldberg type
  • Shprintzen-Goldberg omphalocele syndrome: a new patient with an expanded phenotype
  • Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child
  • Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis
  • Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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