Emergencies associated with genetic syndromes

Robert W. Marion, Joy Samanich

Research output: Chapter in Book/Report/Conference proceedingChapter


Congenital malformations Congenital malformations are present in approximately 3% of newborns in the United States. Malformations may occur as isolated conditions, as in the case of a simple cleft lip or palate, or may cluster together in recognizable patterns, or syndromes, such as trisomy 13. Early diagnosis of a specific syndrome provides an explanation for the family, expedites the detection of associated internal anomalies, and facilitates appropriate genetic counseling of the family. For the physician working in the ED, recognition of a syndromic diagnosis is of special importance. Often, presenting symptoms are due to internal manifestations associated with that syndrome, and early identification of such associated problems can be life-saving. Table 10-1 lists some commonly occurring congenital malformation syndromes and the possible conditions with which affected individuals may present to the ED.

Original languageEnglish (US)
Title of host publicationClinical Manual of Emergency Pediatrics, Fifth Edition
PublisherCambridge University Press
Number of pages5
ISBN (Electronic)9780511919268
ISBN (Print)9780521736879
StatePublished - Jan 1 2010

ASJC Scopus subject areas

  • Medicine(all)


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