We report two fetuses with Fryns syndrome including the typical facial appearance and distal limb and lung hypoplasia, but no diaphragmatic hernias. The parents were consanguineous. Characteristic in both cases were the distal limb defects with brachytelephalangism and aplasia of the distal phalanges of the first toe. Since one of the two sibs had severe lung hypoplasia without macroscopic or microscopic defects of the diaphragm, we show that lung hypoplasia can occur independently from diaphragmatic defects in Fryns syndrome.
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.