title: Variability in the phenotypic expression of fryns syndrome: A report of two sibships.
abstract: We report on two sibships with four fetuses of 12, 15, 17, and 20 weeks of gestation, respectively, and 1 preterm baby of 31 weeks of gestation affected by a multiple congenital disorder with manifestation suggestive of Fryns syndrome. In addition to the characteristic malformation pattern in Fryns syndrome, they presented with fetal hydrops, cystic hygroma, and multiple pterygias, allowing prenatal ultrasound diagnosis as early as in the 11th week of gestation. The two affected fetuses of family 1 showed severe craniofacial anomalies with bilateral cleft lip and palate, acral hypoplasia, postaxial oligodactyly, persistent truncus arteriosus, and interrupted aortic arch, asplenia sequence, and complex central nervous system midline malformations. In family 2 with three affected sibs, ear anomalies with atresia of the auditory canals, postaxial hexadactyly, intestinal atresias, callosal defects, and eye colobomas were the most outstanding features. On the basis of the present findings and former reports, the inter- and intrafamiliar phenotypic variability in Fryns syndrome, possible pathogenetic mechanisms, and the value of prenatal diagnosis are discussed. In the pathogenetic discussion, a special emphasis is put on the neural crest cell developmental field.
authors.affiliation: Institut für Klinische Genetik, Philipps-Universität Marburg, Marburg, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Ramsing
authors.forename: G
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: W
authors.initials: W
authors.lastname: Holzgreve
authors.forename: B
authors.initials: B
authors.lastname: Fritz
authors.forename: H
authors.initials: H
authors.lastname: Rehder
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D003964:Diaphragm / Q000002:abnormalities*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D005808:Genes, Recessive; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging / Q000235:genetics*; D007231:Infant, Newborn; D007621:Karyotyping; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D018191:Lymphangioma, Cystic / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal