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Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome.
Am J Med Genet. 1989 Jan; 32(1):93-9.AJ

Abstract

We describe five patients with Fryns syndrome. Four presented with diaphragmatic hernia and died in the neonatal period. One did not have diaphragmatic involvement and survived but is severely mentally retarded. All patients had "coarse" faces, microretrognathia, macrostomia, and distal digital hypoplasia. In addition to previously reported traits, our patients had clinical manifestations that have not previously been described, including omphalocele, broad clavicles, Hirschsprung "disease," and anal anomalies. The condition was detected antenatally in three of the cases. The patients include two sib pairs, further supporting autosomal recessive inheritance.

Authors+Show Affiliations

Bamforth JS
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Leonard CO
No affiliation info available
Chodirker BN
No affiliation info available
Chitayat D
No affiliation info available
Gritter HL
No affiliation info available
Evans JA
No affiliation info available
Keena B
No affiliation info available
Pantzar T
No affiliation info available
Friedman JM
No affiliation info available
Hall JG
No affiliation info available

MeSH

Abnormalities, MultipleFacial ExpressionFemaleGenes, RecessiveHernias, Diaphragmatic, CongenitalHumansInfant, NewbornIntellectual DisabilityLimb Deformities, CongenitalMalePrenatal DiagnosisSyndromeUltrasonography

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2650550

Citation

Bamforth, J S., et al. "Congenital Diaphragmatic Hernia, Coarse Facies, and Acral Hypoplasia: Fryns Syndrome." American Journal of Medical Genetics, vol. 32, no. 1, 1989, pp. 93-9.
Bamforth JS, Leonard CO, Chodirker BN, et al. Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome. Am J Med Genet. 1989;32(1):93-9.
Bamforth, J. S., Leonard, C. O., Chodirker, B. N., Chitayat, D., Gritter, H. L., Evans, J. A., Keena, B., Pantzar, T., Friedman, J. M., & Hall, J. G. (1989). Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome. American Journal of Medical Genetics, 32(1), 93-9.
Bamforth JS, et al. Congenital Diaphragmatic Hernia, Coarse Facies, and Acral Hypoplasia: Fryns Syndrome. Am J Med Genet. 1989;32(1):93-9. PubMed PMID: 2650550.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome. AU - Bamforth,J S, AU - Leonard,C O, AU - Chodirker,B N, AU - Chitayat,D, AU - Gritter,H L, AU - Evans,J A, AU - Keena,B, AU - Pantzar,T, AU - Friedman,J M, AU - Hall,J G, PY - 1989/1/1/pubmed PY - 1989/1/1/medline PY - 1989/1/1/entrez SP - 93 EP - 9 JF - American journal of medical genetics JO - Am J Med Genet VL - 32 IS - 1 N2 - We describe five patients with Fryns syndrome. Four presented with diaphragmatic hernia and died in the neonatal period. One did not have diaphragmatic involvement and survived but is severely mentally retarded. All patients had "coarse" faces, microretrognathia, macrostomia, and distal digital hypoplasia. In addition to previously reported traits, our patients had clinical manifestations that have not previously been described, including omphalocele, broad clavicles, Hirschsprung "disease," and anal anomalies. The condition was detected antenatally in three of the cases. The patients include two sib pairs, further supporting autosomal recessive inheritance. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2650550/Congenital_diaphragmatic_hernia_coarse_facies_and_acral_hypoplasia:_Fryns_syndrome_ DB - PRIME DP - Unbound Medicine ER -