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Fryns syndrome without diaphragmatic hernia?

Abstract
We report on a child with Fryns syndrome including lung hypoplasia, characteristic facial appearance, cleft palate, cardiac anomaly, distal limb abnormalities, absent nipples, bicornuate uterus and early death. In contrast to most patients with Fryns syndrome, diaphragmatic hernia was absent in our patient. However, the diaphragm was reduced to a fibrous web with reduced muscular component.
AuthorsP J Willems, G H Keersmaekers, K E Dom, C Colpaert, E Schatteman, I B Vergote, J E Dumon
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 41 Issue 2 Pg. 255-7 (Nov 01 1991) ISSN: 0148-7299 [Print] United States
PMID1785645 (Publication Type: Case Reports, Journal Article, Review)
Topics
  • Abnormalities, Multiple (epidemiology, genetics, pathology)
  • Diaphragm (pathology)
  • Face (abnormalities)
  • Female
  • Genes, Lethal
  • Genes, Recessive
  • Heart Septal Defects, Ventricular (genetics)
  • Hernia, Diaphragmatic
  • Humans
  • Infant, Newborn
  • Lung (abnormalities)
  • Prevalence
  • Syndrome

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