Fryns syndrome: two further cases without lateral diaphragmatic defects

Abstract

We report on two unrelated infants with Fryns syndrome but without lateral diaphragmatic defects. In case 1, a female stillborn, pertinent findings included a coarse facies, cleft palate, short neck with a broad pterygium, heart defect, lung hypoplasia, omphalocele, urogenital malformations, anal atresia, and distal digital hypoplasia. Case 2 showed a coarse facies with cleft lip and palate, para-oesophageal hernia with herniation of the stomach into the thoracic cavity, malrotation of the intestine, hydronephrosis, and anal atresia. At age 14 months she was developmentally severely retarded. These observations represent the 11th and 12th reports of probable Fryns syndrome without lateral diaphragmatic defect.