title: [Fryns syndrome--pre and postnatal diagnosis].
abstract: Fryns, in 1979, delineated an autosomal recessive lethal syndrome of multiple congenital malformations, including diaphragmatic defect, craniofacial anomalies and distal limb hypoplasia. So far, 33 cases of Fryns syndrome have been published. We here report the fourth case of Fryns syndrome with consanguinous parents. It was the second child of healthy Turkish parents (first cousins). Pregnancy was complicated by massive polyhydramnios since week 32. Imperforate anus and diaphragmatic defect was detected by ultrasound. Spontaneous delivery occurred in week 37, the child died 5 hrs after birth. Major symptoms were a partial aplasia of the left diaphragm, coarse facies, absent nails of the fifth fingers and fifth toes, VSD, imperforate anus and cerebellar heterotopia. We discuss, in the context of our observation and of the reports in the literature, the possible heterogeneity of Fryns syndrome and the possibility of prenatal diagnosis.
authors.affiliation: Institut für Humangenetik, Klinikum der J. W. Goethe-Universität.
authors.forename: U
authors.initials: U
authors.lastname: Dix
authors.forename: U
authors.initials: U
authors.lastname: Beudt
authors.forename: U
authors.initials: U
authors.lastname: Langenbeck
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D001003:Anal Canal / Q000002:abnormalities; D002869:Chromosome Aberrations / Q000235:genetics / Q000473:pathology*; D025063:Chromosome Disorders; D005147:Facial Bones / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000150:complications; D006228:Hand Deformities, Congenital / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000150:complications; D008297:Male; D013577:Syndrome
vernacular_title: Fryns-Syndrom--prä- und postnatale Diagnose.