title: Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel-Losonci syndrome?
abstract: We report on a baby girl with absence of the left hemidiaphragm, lumbosacral myelomeningocele, syndactyly with limb deficiencies, and bilateral hydronephrosis. A similar array of malformations was described previously by Czeizel and Losonci [Hum Genet 77:203-204, 1987] in a single family which showed a transmission pattern suggesting autosomal dominant inheritance with variable expressivity. The presence of limb abnormalities and the location of the neural tube defects in these cases suggest that the underlying pathogenesis probably does not involve the same disturbances of midline field development which have been postulated to occur in the schisis association.
authors.affiliation: Istituto di Genetica Medica, Facoltà di Medicina e Chirurgia A. Gemelli, Università Cattolica del S. Cuore, Rome, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Genuardi
authors.forename: E
authors.initials: E
authors.lastname: Silvestri
authors.forename: C
authors.initials: C
authors.lastname: Tozzi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D003964:Diaphragm / Q000002:abnormalities*; D017809:Fatal Outcome; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006869:Hydronephrosis / Q000151:congenital; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D009436:Neural Tube Defects / Q000235:genetics*; D013576:Syndactyly / Q000235:genetics; D013577:Syndrome