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Fryns syndrome without diaphragmatic hernia?
Am J Med Genet. 1991 Nov 01; 41(2):255-7.AJ

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.

Authors+Show Affiliations

Willems PJ
Department of Medical Genetics, University of Antwerp-U.I.A., Wilrijk, Belgium.
Keersmaekers GH
No affiliation info available
Dom KE
No affiliation info available
Colpaert C
No affiliation info available
Schatteman E
No affiliation info available
Vergote IB
No affiliation info available
Dumon JE
No affiliation info available

MeSH

Abnormalities, MultipleDiaphragmFaceFemaleGenes, LethalGenes, RecessiveHeart Septal Defects, VentricularHernia, DiaphragmaticHumansInfant, NewbornLungPrevalenceSyndrome

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

1785645

Citation

Willems, P J., et al. "Fryns Syndrome Without Diaphragmatic Hernia?" American Journal of Medical Genetics, vol. 41, no. 2, 1991, pp. 255-7.
Willems PJ, Keersmaekers GH, Dom KE, et al. Fryns syndrome without diaphragmatic hernia? Am J Med Genet. 1991;41(2):255-7.
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.
Willems PJ, et al. Fryns Syndrome Without Diaphragmatic Hernia. Am J Med Genet. 1991 Nov 1;41(2):255-7. PubMed PMID: 1785645.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fryns syndrome without diaphragmatic hernia? AU - Willems,P J, AU - Keersmaekers,G H, AU - Dom,K E, AU - Colpaert,C, AU - Schatteman,E, AU - Vergote,I B, AU - Dumon,J E, PY - 1991/11/1/pubmed PY - 1991/11/1/medline PY - 1991/11/1/entrez SP - 255 EP - 7 JF - American journal of medical genetics JO - Am J Med Genet VL - 41 IS - 2 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1785645/Fryns_syndrome_without_diaphragmatic_hernia DB - PRIME DP - Unbound Medicine ER -