title: Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia.
abstract: Fryns syndrome is an autosomal recessive, genetically determined condition with variable expression, which includes abnormal facial features, diaphragmatic hernia, distal limb abnormalities, and malformations of the cardiovascular, gastrointestinal, genitourinary, and central nervous systems. Five cases of children with Fryns syndrome, including an example of familial recurrence and a case of long-term survival, are described. This report brings to 25 the number of cases reported in the literature and further serves to illustrate the clinical variability of this disorder.
authors.affiliation: Department of Pediatrics, University of California, San Diego.
authors.forename: C
authors.initials: C
authors.lastname: Cunniff
authors.forename: K L
authors.initials: KL
authors.lastname: Jones
authors.forename: H M
authors.initials: HM
authors.lastname: Saal
authors.forename: H J
authors.initials: HJ
authors.lastname: Stern
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005317:Fetal Growth Retardation; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D005865:Gestational Age; D006345:Heart Septal Defects, Ventricular / Q000235:genetics; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011597:Psychomotor Performance; D013577:Syndrome