Kishnani P, Iafolla A K, McConkie-Rosell A, Van Hove J L, Kanter R J, Kahler S G
Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Am J Med Genet. 1995 Oct 23;59(1):44-8. doi: 10.1002/ajmg.1320590110.
Most congenital cutaneous hemangiomas are a sporadic occurrence. Hemangiomas have been found in association with coarctation of the aorta and a right aortic arch. A separate association has been noted of midline ventral defects with hemangiomas. We report on a patient with multiple hemangiomas, coarctation of the aorta and a right aortic arch, a superaumbilical midabdominal raphé and sternal cleft. Our patient represents an overlap between these two conditions. Review of the literature identified four additional patients with a similar combination of anomalies. The clinical overlap between these 5 patients suggests that they are variants of the same conditions and represent a spectrum of defects that includes hemangiomas, midline ventral defects, aortic arch abnormalities and brain malformation.
大多数先天性皮肤血管瘤是散发性的。已发现血管瘤与主动脉缩窄及右位主动脉弓有关。还注意到中线腹侧缺损与血管瘤之间存在单独的关联。我们报告了一名患有多发性血管瘤、主动脉缩窄和右位主动脉弓、脐上中腹部缝及胸骨裂的患者。我们的患者代表了这两种情况的重叠。文献回顾发现另外4例具有类似异常组合的患者。这5例患者的临床重叠表明，它们是同一疾病的变体，代表了一系列缺陷，包括血管瘤、中线腹侧缺损、主动脉弓异常和脑畸形。
