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Fryns syndrome without diaphragmatic hernia?

1991; Wiley; Volume: 41; Issue: 2 Linguagem: Inglês

10.1002/ajmg.1320410225

1096-8628

Patrick J. Willems, Guy H. A. Keersmaekers, Koen E. Dom, Cécile Colpaert, Etienne Schatteman, Ignace Vergote, Jan E. Dumon,

Congenital Anomalies and Fetal Surgery

We report on a child with Fryns syndrome including lung hypoplasia, characteristic facial appearance, cleft palate, cardiac anomaly, distal limb abnormalities, absent nipples, bicornuate uterus and early death. In contrast to most patients with Fryns syndrome, diaphragmatic hernia was absent in our patient. However, the diaphragm was reduced to a fibrous web with reduced muscular component.