Dilated ascending aorta in a child with ring chromosome 21 syndrome

Ring chromosome 21 syndrome is a rare condition with a well-characterized phenotype. Affected individuals have recognizable dysmorphic features, developmental delays, growth retardation, and a predisposition for congenital malformations involving the neurologic, craniofacial, digestive, genitourinary, skeletal, and hematologic systems. Structural cardiac anomalies have also been described, but dilated ascending aorta has not been previously reported in association with ring 21 (r(21)). Although rarely seen in this syndrome, the presence of ectopia lentis, abdominal herniae, and dilated ascending aorta suggest an underlying connective tissue disorder. A possible explanation is haploinsufficiency of the COL6A1, COL6A2, and/or COL18A genes located on the distal portion of chromosome 21q, which are lost when the ring chromosome is formed. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html.