title: Recurrent congenital diaphragmatic hernia in Ehlers-Danlos syndrome.
abstract: Ehlers-Danlos syndrome (EDS) includes a group of connective tissue disorders with abnormal collagen metabolism and a diverse clinical spectrum. We report two siblings with EDS who both presented with congenital diaphragmatic hernia (CDH). The elder sister suffered from recurrent diaphragmatic hernia twice and EDS was overlooked initially. Echocardiography as well as contrast-enhanced magnetic resonance angiography (MRA) showed dilatation of the pulmonary artery, and marked elongation and tortuosity of the aorta and its branches. A diagnosis of EDS was eventually established when these findings were coupled with the clinical features of hyperelastic skin. Her younger brother also had similar features. This report emphasizes that EDS may present as CDH in a small child which could easily be overlooked. Without appropriate surgery, diaphragmatic hernia might occur. Echocardiographic screening is recommended in patients with CDH. Contrast-enhanced MRA can be helpful in delineation of abnormally tortuous aortic great vessels that are an important clue to the early diagnosis of EDS.
authors.affiliation: Department of Pediatric Cardiology and Radiology, Chang Gung Children's Hospital, Chang Gung University, 123 Ta Pei Road, Niao Sung Hsiang, Taoyuan, Kaohsiung, Taiwan.
authors.forename: I Chun
authors.initials: IC
authors.lastname: Lin
authors.forename: Sheung Fat
authors.initials: SF
authors.lastname: Ko
authors.forename: Chie Song
authors.initials: CS
authors.lastname: Shieh
authors.forename: Chien Fu
authors.initials: CF
authors.lastname: Huang
authors.forename: Shao Ju
authors.initials: SJ
authors.lastname: Chien
authors.forename: Chi Di
authors.initials: CD
authors.lastname: Liang
mesh_terms: D002675:Child, Preschool; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000235:genetics; D005260:Female; D006548:Hernia, Diaphragmatic / Q000209:etiology / Q000235:genetics / Q000601:surgery; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007223:Infant; D018810:Magnetic Resonance Angiography; D008297:Male; D012008:Recurrence