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The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome.
Am J Med Genet. 1988 Dec; 31(4):805-14.AJ

Abstract

We describe 2 sibs with the syndrome of diaphragmatic hernia, abnormal face, and distal limb anomalies. Both infants died shortly after birth with severe respiratory distress. Postmortem examination showed gross internal anomalies: Dandy-Walker malformation, ventricular septal defect, and renal cystic dysplasia. This combination of anomalies, also termed the Fryns syndrome, appears to be a distinct MCA syndrome with variable expression and probable autosomal recessive inheritance. Prenatal ultrasonographic diagnosis was successful in both patients.

Authors+Show Affiliations

Department of Pathology, Katholieke Universiteit Leuven, Belgium.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3239572

Citation

Moerman, P, et al. "The Syndrome of Diaphragmatic Hernia, Abnormal Face and Distal Limb Anomalies (Fryns Syndrome): Report of Two Sibs With Further Delineation of This Multiple Congenital Anomaly (MCA) Syndrome." American Journal of Medical Genetics, vol. 31, no. 4, 1988, pp. 805-14.
Moerman P, Fryns JP, Vandenberghe K, et al. The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome. Am J Med Genet. 1988;31(4):805-14.
Moerman, P., Fryns, J. P., Vandenberghe, K., Devlieger, H., & Lauweryns, J. M. (1988). The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome. American Journal of Medical Genetics, 31(4), 805-14.
Moerman P, et al. The Syndrome of Diaphragmatic Hernia, Abnormal Face and Distal Limb Anomalies (Fryns Syndrome): Report of Two Sibs With Further Delineation of This Multiple Congenital Anomaly (MCA) Syndrome. Am J Med Genet. 1988;31(4):805-14. PubMed PMID: 3239572.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome. AU - Moerman,P, AU - Fryns,J P, AU - Vandenberghe,K, AU - Devlieger,H, AU - Lauweryns,J M, PY - 1988/12/1/pubmed PY - 1988/12/1/medline PY - 1988/12/1/entrez SP - 805 EP - 14 JF - American journal of medical genetics JO - Am J Med Genet VL - 31 IS - 4 N2 - We describe 2 sibs with the syndrome of diaphragmatic hernia, abnormal face, and distal limb anomalies. Both infants died shortly after birth with severe respiratory distress. Postmortem examination showed gross internal anomalies: Dandy-Walker malformation, ventricular septal defect, and renal cystic dysplasia. This combination of anomalies, also termed the Fryns syndrome, appears to be a distinct MCA syndrome with variable expression and probable autosomal recessive inheritance. Prenatal ultrasonographic diagnosis was successful in both patients. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3239572/The_syndrome_of_diaphragmatic_hernia_abnormal_face_and_distal_limb_anomalies__Fryns_syndrome_:_report_of_two_sibs_with_further_delineation_of_this_multiple_congenital_anomaly__MCA__syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1988&volume=31&issue=4&spage=805 DB - PRIME DP - Unbound Medicine ER -