title: Craniorachischisis and heterotaxia with heart disease in twins: link or change nature?
abstract: Craniorachischisis is a rare neural tube defect in which both acrania and a complete schisis of the vertebral column are present. Heterotaxy results from failure to establish normal left-right asymmetry during embryonic development and is characterized by a variable group of congenital anomalies that include complex cardiac malformations and situs inversus or situs ambiguous. We report a diamniotic twin pregnancy with two malformed fetuses affected one by craniorachischisis and the other by heterotaxya with paired right-sided viscera, asplenia, and complex congenital heart disease. The occurrence of severe congenital anomalies in both members of the twin pair implies a strong influence of genetic factors. At present, the genetic basis determining the different phenotypes observed in our twins is unknown. Our case with the simultaneous presence of both midline and laterality defects in twins supports the hypothesis that the midline plays a critical role in establishing left-right asymmetry in the body and that a mutation in a gene responsible for both heterotaxy and midline defects may be strongly supposed.
authors.affiliation: Laboratorio di Citogenetica, Dipartimento Materno Infantile, Centro di Consulenza Genetica e di Teratologia della Riproduzione, PO Garibaldi, Nesima, Catania, Italia. sebastiano.bianca@tiscali.it
authors.forename: Sebastiano
authors.initials: S
authors.lastname: Bianca
authors.forename: Giovanni
authors.initials: G
authors.lastname: Bartoloni
authors.forename: Chiara
authors.initials: C
authors.lastname: Barone
authors.forename: Barbara
authors.initials: B
authors.lastname: Barrano
authors.forename: Gustavo
authors.initials: G
authors.lastname: Boemi
authors.forename: Vincenzo
authors.initials: V
authors.lastname: De Filippo
authors.forename: Lara
authors.initials: L
authors.lastname: Indaco
authors.forename: Antonella
authors.initials: A
authors.lastname: Cataliotti
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Ettore
mesh_terms: D000015:Abnormalities, Multiple; D000028:Abortion, Induced; D003914:Dextrocardia / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics; D005260:Female; D005313:Fetal Death; D040181:Genetic Diseases, X-Linked / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics; D005838:Genotype; D005865:Gestational Age; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging / Q000196:embryology* / Q000235:genetics; D059446:Heterotaxy Syndrome; D006801:Humans; D009436:Neural Tube Defects / Q000000981:diagnostic imaging / Q000196:embryology* / Q000235:genetics; D010641:Phenotype; D011247:Pregnancy; D012857:Situs Inversus / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics; D016216:Ultrasonography, Prenatal