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Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia.
Pediatrics. 1990 Apr; 85(4):499-504.Ped

Abstract

Fryns syndrome is an autosomal recessive, genetically determined condition with variable expression, which includes abnormal facial features, diaphragmatic hernia, distal limb abnormalities, and malformations of the cardiovascular, gastrointestinal, genitourinary, and central nervous systems. Five cases of children with Fryns syndrome, including an example of familial recurrence and a case of long-term survival, are described. This report brings to 25 the number of cases reported in the literature and further serves to illustrate the clinical variability of this disorder.

Authors+Show Affiliations

Cunniff C
Department of Pediatrics, University of California, San Diego.
Jones KL
No affiliation info available
Saal HM
No affiliation info available
Stern HJ
No affiliation info available

MeSH

Abnormalities, MultipleFaceFacial BonesFemaleFetal Growth RetardationFingersGenes, RecessiveGestational AgeHeart Septal Defects, VentricularHernia, DiaphragmaticHumansInfant, NewbornMalePregnancyPsychomotor PerformanceSyndrome

Pub Type(s)

Case Reports
Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

2314962

Citation

Cunniff, C, et al. "Fryns Syndrome: an Autosomal Recessive Disorder Associated With Craniofacial Anomalies, Diaphragmatic Hernia, and Distal Digital Hypoplasia." Pediatrics, vol. 85, no. 4, 1990, pp. 499-504.
Cunniff C, Jones KL, Saal HM, et al. Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. Pediatrics. 1990;85(4):499-504.
Cunniff, C., Jones, K. L., Saal, H. M., & Stern, H. J. (1990). Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. Pediatrics, 85(4), 499-504.
Cunniff C, et al. Fryns Syndrome: an Autosomal Recessive Disorder Associated With Craniofacial Anomalies, Diaphragmatic Hernia, and Distal Digital Hypoplasia. Pediatrics. 1990;85(4):499-504. PubMed PMID: 2314962.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. AU - Cunniff,C, AU - Jones,K L, AU - Saal,H M, AU - Stern,H J, PY - 1990/4/1/pubmed PY - 1990/4/1/medline PY - 1990/4/1/entrez SP - 499 EP - 504 JF - Pediatrics JO - Pediatrics VL - 85 IS - 4 N2 - Fryns syndrome is an autosomal recessive, genetically determined condition with variable expression, which includes abnormal facial features, diaphragmatic hernia, distal limb abnormalities, and malformations of the cardiovascular, gastrointestinal, genitourinary, and central nervous systems. Five cases of children with Fryns syndrome, including an example of familial recurrence and a case of long-term survival, are described. This report brings to 25 the number of cases reported in the literature and further serves to illustrate the clinical variability of this disorder. SN - 0031-4005 UR - https://www.unboundmedicine.com/medline/citation/2314962/Fryns_syndrome:_an_autosomal_recessive_disorder_associated_with_craniofacial_anomalies_diaphragmatic_hernia_and_distal_digital_hypoplasia_ DB - PRIME DP - Unbound Medicine ER -