[A new sublethal syndrome with multiple malformations associating diaphragmatic hernia, distal digital hypoplasia, and craniofacial anomalies. The "Fryns syndrome"].
Prevalence, Clinical variability, Etiology, Survival and Prenatal Diagnosis--In this report, we summarize the actual data on the Fryns syndrome, a true MCA/MR syndrome with autosomal recessive inheritance and sublethal outcome. In addition to the diagnostic triad of diaphragmatic hernia--digital limb hypoplasia--coarse facies, multiple internal malformations are a constant feature.
Fryns
J P
JP
Division of Human Genetics, University of Leuven.
Moerman
P
P
Van den Berghe
H
H
Aymé
S
S
D000015:Abnormalities, Multiple; D003964:Diaphragm / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D008607:Intellectual Disability; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
Un nouveau syndrome polymalformatif et subléthal associant hernie diaphragmatique, hypoplasie digitale distale et anomalies craniofaciales. Le "syndrome de Fryns".