Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome.
We report a brother and sister who died neonatally with a distinctive but variable multiple congenital anomaly (MCA) syndrome. Anomalies in both included similar facial changes, cleft palate, distal digital hypoplasia, lung hypoplasia, and urogenital abnormalities. They were discordant for cleft lip, diaphragmatic hernia, and Dandy-Walker anomaly. These sibs resemble three recently reported stillborn children and support the existence of a "new" autosomal recessive MCA syndrome with variable expressivity.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002972:Cleft Palate / Q000235:genetics / Q000473:pathology; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D017880:Limb Deformities, Congenital; D008297:Male; D013577:Syndrome