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Fryns syndrome: another example of non-lethal outcome with severe mental handicap.
Genet Couns. 1992; 3(4):187-93.GC

Abstract

In this report we present clinical data of a patient with Fryns syndrome who survived the neonatal period. Two sibs died intra-uterine. The syndrome is characterized by craniofacial dysmorphism, diaphragmatic hernia and distal limb hypoplasia. Lethality in most cases is caused by the diaphragmatic hernia with concomitant lung hypoplasia. In patients with Fryns syndrome presenting without the diaphragmatic defect and lung-hypoplasia, survival beyond the neonatal period is possible; mental retardation is present in all four patients described so far. This report illustrates, once more, the great intrafamilial variation of the syndrome and emphasises its important consequences for genetic counseling and prenatal diagnosis.

Authors+Show Affiliations

Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1472353

Citation

Hanssen, A M., et al. "Fryns Syndrome: Another Example of Non-lethal Outcome With Severe Mental Handicap." Genetic Counseling (Geneva, Switzerland), vol. 3, no. 4, 1992, pp. 187-93.
Hanssen AM, Schrander-Stumpel CT, Thiry PA, et al. Fryns syndrome: another example of non-lethal outcome with severe mental handicap. Genet Couns. 1992;3(4):187-93.
Hanssen, A. M., Schrander-Stumpel, C. T., Thiry, P. A., & Fryns, J. P. (1992). Fryns syndrome: another example of non-lethal outcome with severe mental handicap. Genetic Counseling (Geneva, Switzerland), 3(4), 187-93.
Hanssen AM, et al. Fryns Syndrome: Another Example of Non-lethal Outcome With Severe Mental Handicap. Genet Couns. 1992;3(4):187-93. PubMed PMID: 1472353.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fryns syndrome: another example of non-lethal outcome with severe mental handicap. AU - Hanssen,A M, AU - Schrander-Stumpel,C T, AU - Thiry,P A, AU - Fryns,J P, PY - 1992/1/1/pubmed PY - 2000/5/16/medline PY - 1992/1/1/entrez SP - 187 EP - 93 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 3 IS - 4 N2 - In this report we present clinical data of a patient with Fryns syndrome who survived the neonatal period. Two sibs died intra-uterine. The syndrome is characterized by craniofacial dysmorphism, diaphragmatic hernia and distal limb hypoplasia. Lethality in most cases is caused by the diaphragmatic hernia with concomitant lung hypoplasia. In patients with Fryns syndrome presenting without the diaphragmatic defect and lung-hypoplasia, survival beyond the neonatal period is possible; mental retardation is present in all four patients described so far. This report illustrates, once more, the great intrafamilial variation of the syndrome and emphasises its important consequences for genetic counseling and prenatal diagnosis. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/1472353/Fryns_syndrome:_another_example_of_non_lethal_outcome_with_severe_mental_handicap_ L2 - https://www.diseaseinfosearch.org/result/2955 DB - PRIME DP - Unbound Medicine ER -