| Literature DB >> 8785453 |
T Maeda1, Y Suzuki, S Haeno, M Asada, R Hiramatsu, F Tanaka, M Okada, T Suzuki.
Abstract
Two sisters with Ehlers-Danlos syndrome, inherited as an autosomal recessive trait, and congenital heart disease are herein reported. One was a 20-year-old woman with Ehlers-Danlos syndrome and multiple aphthous stomatitis, bronchial asthma, an emphysematous lung, a ventricular septal defect and a bilateral inguinal hernia due to hyperextensibility and joint hypermobility. The other was a 17-year-old girl with the same syndrome and an atrial septal defect, a ventricular septal defect and patent ductus arteriosus. The combination of Ehlers-Danlos syndrome and congenital heart anomalies in these siblings suggest a common genetic defect to be the cause of these diseases.Entities:
Mesh:
Year: 1996 PMID: 8785453 DOI: 10.2169/internalmedicine.35.200
Source DB: PubMed Journal: Intern Med ISSN: 0918-2918 Impact factor: 1.271