diaphragmatic defect

Twin A lacked an apparent diaphragmatic defect, and at 1 year of age had mild developmental delay.

They noted that a diaphragmatic defect had been described in 4 of the 5 reported cases and lung hypoplasia in all.

The reports suggested that survival beyond the neonatal period is possible when the diaphragmatic defect and lung hypoplasia are not present.

The authors suggested that absence of diaphragmatic defect in Fryns syndrome may represent a subpopulation of more mildly affected patients.

Vargas et al. (2000) reported a pair of monozygotic twins with Fryns syndrome discordant for severity of diaphragmatic defect.

In addition to the diaphragmatic defects and distal limb anomalies, they presented with fetal hydrops, cystic hygroma, and multiple pterygias.

Fryns et al. (1979) reported 2 stillborn sisters with a multiple congenital anomaly syndrome characterized by coarse facies with cloudy corneae, diaphragmatic defects, absence of lung lobulation, and distal limb deformities.

The most frequent anomalies were diaphragmatic defects, lung hypoplasia, cleft lip and palate, cardiac defects, including septal defects and aortic arch anomalies, renal cysts, urinary tract malformations, and distal limb hypoplasia.

Complex congenital abnormalities within the same organ (for example, tetralogy of Fallot) or sequences (for example, spina bifida cystica with hydrocephalus and clubfoot, or diaphragmatic defect with lung hypoplasia and dextrocardia) were classified as isolated.