title: VACTERL or MURCS association in a girl with neurenteric cyst and identical thoracic malformations in the father: a case of gonosomal mosaicism?
abstract: We report on a female infant with lethal congenital malformations including extreme hydrocephalus due to aqueductal stenosis, vertebral segmentation anomalies, fused costae, anal atresia, renal dysplasia, and bicornuate uterus with a double blind vagina. The VACTERL and the MURCS associations are possible diagnoses. Her father had a neurenteric cyst in infancy. He has identical vertebral and costal malformations as his daughter but is otherwise healthy. The possibility of dominant inheritance with gonosomal mosaicism in the father is discussed.
authors.affiliation: Department of Medical Genetics, Ullevaal University Hospital, Oslo, Norway.
authors.forename: K H
authors.initials: KH
authors.lastname: Orstavik
authors.forename: J
authors.initials: J
authors.lastname: Steen-Johnsen
authors.forename: A
authors.initials: A
authors.lastname: Foerster
authors.forename: T
authors.initials: T
authors.lastname: Fjeld
authors.forename: K
authors.initials: K
authors.lastname: Skullerud
authors.forename: S O
authors.initials: SO
authors.lastname: Lie
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D016136:Spina Bifida Occulta / Q000235:genetics*; D013131:Spine / Q000002:abnormalities; D013577:Syndrome