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.
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.
Moerman
P
P
Department of Pathology, Katholieke Universiteit Leuven, Belgium.
Fryns
J P
JP
Vandenberghe
K
K
Devlieger
H
H
Lauweryns
J M
JM
D000015:Abnormalities, Multiple / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive; D005820:Genetic Testing; D006548:Hernia, Diaphragmatic / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male