Bianca Sebastiano, Bartoloni Giovanni, Barone Chiara, Barrano Barbara, Boemi Gustavo, De Filippo Vincenzo, Indaco Lara, Cataliotti Antonella, Ettore Giuseppe
Laboratorio di Citogenetica, Dipartimento Materno Infantile, Centro di Consulenza Genetica e di Teratologia della Riproduzione, PO Garibaldi, Nesima, Catania, Italia.
Congenit Heart Dis. 2010 Sep-Oct;5(5):450-3. doi: 10.1111/j.1747-0803.2010.00400.x.
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.
颅脑脊柱裂是一种罕见的神经管缺陷，其特征为无脑畸形和脊柱完全裂开。内脏异位是由于胚胎发育过程中未能建立正常的左右不对称性所致，其特征是一组可变的先天性异常，包括复杂的心脏畸形和内脏反位或内脏位置不明确。我们报告了一例双羊膜囊双胎妊娠，两个畸形胎儿，一个患有颅脑脊柱裂，另一个患有内脏异位，伴有双侧右侧脏器、无脾和复杂的先天性心脏病。双胎均出现严重先天性异常意味着遗传因素的强烈影响。目前，决定我们这对双胞胎所观察到的不同表型的遗传基础尚不清楚。我们的病例中双胞胎同时存在中线和左右侧缺陷，支持了中线在身体左右不对称性建立中起关键作用的假说，并且强烈推测可能存在一个负责内脏异位和中线缺陷的基因突变。
