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Title: 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
Authors: Moerman, Philippe ×
Fryns, Jean-Pierre
Vandenberghe, K
Devlieger, Hugo
Lauweryns, J M #
Issue Date: Dec-1988
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics vol:31 issue:4 pages:805-14
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.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Translational Cell & Tissue Research
Section Newborn (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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