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Fryns syndrome
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Here’s a syndrome to bear in mind when you see a newborn baby with congenital diaphragmatic hernia. In 1979 JP Fryns and colleagues described two siblings who were stillborn and had craniofacial anomalies (coarse facies, large nose with flat bridge, large mouth, narrow palpebral fissures, low set ears, and cleft palate), hyperplasia of distal phalanges, short, webbed neck, and bilateral diaphragmatic hernias. It is an autosomal recessive condition but the chromosomal location is unknown. There is considerable variation in phenotype but …