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[A new sublethal syndrome with multiple malformations associating diaphragmatic hernia, distal digital hypoplasia, and craniofacial anomalies. The "Fryns syndrome"].
J Genet Hum. 1989 Sep; 37(3):203-5.JG

Abstract

Prevalence, Clinical variability, Etiology, Survival and Prenatal Diagnosis--In this report, we summarize the actual data on the Fryns syndrome, a true MCA/MR syndrome with autosomal recessive inheritance and sublethal outcome. In addition to the diagnostic triad of diaphragmatic hernia--digital limb hypoplasia--coarse facies, multiple internal malformations are a constant feature.

Authors+Show Affiliations

Fryns JP
Division of Human Genetics, University of Leuven.
Moerman P
No affiliation info available
Van den Berghe H
No affiliation info available
Aymé S
No affiliation info available

MeSH

Abnormalities, MultipleDiaphragmFacial BonesFingersGenes, RecessiveIntellectual DisabilitySkullSyndrome

Pub Type(s)

English Abstract
Journal Article

Language

fre

PubMed ID

2625623

Citation

Fryns, J P., et al. "[A New Sublethal Syndrome With Multiple Malformations Associating Diaphragmatic Hernia, Distal Digital Hypoplasia, and Craniofacial Anomalies. the "Fryns Syndrome"]." Journal De Genetique Humaine, vol. 37, no. 3, 1989, pp. 203-5.
Fryns JP, Moerman P, Van den Berghe H, et al. [A new sublethal syndrome with multiple malformations associating diaphragmatic hernia, distal digital hypoplasia, and craniofacial anomalies. The "Fryns syndrome"]. J Genet Hum. 1989;37(3):203-5.
Fryns, J. P., Moerman, P., Van den Berghe, H., & Aymé, S. (1989). [A new sublethal syndrome with multiple malformations associating diaphragmatic hernia, distal digital hypoplasia, and craniofacial anomalies. The "Fryns syndrome"]. Journal De Genetique Humaine, 37(3), 203-5.
Fryns JP, et al. [A New Sublethal Syndrome With Multiple Malformations Associating Diaphragmatic Hernia, Distal Digital Hypoplasia, and Craniofacial Anomalies. the "Fryns Syndrome"]. J Genet Hum. 1989;37(3):203-5. PubMed PMID: 2625623.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [A new sublethal syndrome with multiple malformations associating diaphragmatic hernia, distal digital hypoplasia, and craniofacial anomalies. The "Fryns syndrome"]. AU - Fryns,J P, AU - Moerman,P, AU - Van den Berghe,H, AU - Aymé,S, PY - 1989/9/1/pubmed PY - 1989/9/1/medline PY - 1989/9/1/entrez SP - 203 EP - 5 JF - Journal de genetique humaine JO - J Genet Hum VL - 37 IS - 3 N2 - Prevalence, Clinical variability, Etiology, Survival and Prenatal Diagnosis--In this report, we summarize the actual data on the Fryns syndrome, a true MCA/MR syndrome with autosomal recessive inheritance and sublethal outcome. In addition to the diagnostic triad of diaphragmatic hernia--digital limb hypoplasia--coarse facies, multiple internal malformations are a constant feature. SN - 0021-7743 UR - https://www.unboundmedicine.com/medline/citation/2625623/[A_new_sublethal_syndrome_with_multiple_malformations_associating_diaphragmatic_hernia_distal_digital_hypoplasia_and_craniofacial_anomalies__The_"Fryns_syndrome"]_ DB - PRIME DP - Unbound Medicine ER -