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Willems PJ, Keersmaekers GH, Dom KE, et al. Fryns syndrome without diaphragmatic hernia?. Am J Med Genet. 1991;41(2):255-7doi: 10.1002/ajmg.1320410225.
Willems, P. J., Keersmaekers, G. H., Dom, K. E., Colpaert, C., Schatteman, E., Vergote, I. B., & Dumon, J. E. (1991). Fryns syndrome without diaphragmatic hernia?. American journal of medical genetics, 41(2), 255-7. https://doi.org/10.1002/ajmg.1320410225
Willems, P J, et al. "Fryns syndrome without diaphragmatic hernia?." American journal of medical genetics vol. 41,2 (1991): 255-7. doi: https://doi.org/10.1002/ajmg.1320410225
Willems PJ, Keersmaekers GH, Dom KE, Colpaert C, Schatteman E, Vergote IB, Dumon JE. Fryns syndrome without diaphragmatic hernia?. Am J Med Genet. 1991 Nov 01;41(2):255-7. doi: 10.1002/ajmg.1320410225. PMID: 1785645.
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Am J Med Genet. 1991 Nov 01;41(2):255-7. doi: 10.1002/ajmg.1320410225.

Fryns syndrome without diaphragmatic hernia?.

American journal of medical genetics

P J Willems, G H Keersmaekers, K E Dom, C Colpaert, E Schatteman, I B Vergote, J E Dumon

Affiliations

  1. Department of Medical Genetics, University of Antwerp-U.I.A., Wilrijk, Belgium.

PMID: 1785645 DOI: 10.1002/ajmg.1320410225

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.

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