✦ LIBER ✦

Aortic root dilation in apparent Lujan-Fryns syndrome

✍ Scribed by Wittine, Lara M.; Josephson, Kevin D.; Williams, Marc S.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 29 KB
Volume: 86
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19991029)86:5<405::aid-ajmg2>3.0.co;2-1

No coin nor oath required. For personal study only.

✦ Synopsis

We present a patient and his maternal uncle who have a subaortic ventricular septal defect and aortic root dilation. They both have physical anomalies, characteristic behaviors, and cognitive disabilities that are consistent with the diagnosis of Lujan-Fryns syndrome (LFS). Although there have been 4 cases reported in the literature with heart findings, ventricular septal defect and aortic root dilation have not been previously reported in LFS. Differentiation between LFS and Marfan syndrome (MS) is discussed. The pathophysiology of LFS as a connective tissue disorder is also considered. Am. J. Med. Genet. 86:405-409, 1999.

📜 SIMILAR VOLUMES

Preserved neurobehavioral abilities in L

Preserved neurobehavioral abilities in Lujan-Fryns syndrome

✍ Donders, Jacobus ;Toriello, Helga ;van Doornik, Steven 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 115 KB 👁 1 views

Aortic root dilation in patients with 22

Aortic root dilation in patients with 22q11.2 deletion syndrome

✍ Anitha S. John; Donna M. McDonald-McGinn; Elaine H. Zackai; Elizabeth Goldmuntz 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 77 KB 👁 2 views

Lujan-Fryns syndrome in the differential

Lujan-Fryns syndrome in the differential diagnosis of schizophrenia

✍ De Hert, Marc; Steemans, Dirk; Theys, Paul; Fryns, Jean-Pierre; Peuskens, Jozef 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 6 KB 👁 2 views

Schizophrenia is considered to be a heterogenous disorder. Different etiopathological mechanisms can be attributed to a similar clinical picture as described in DSM-111-R criteria. We present a case of a young man diagnosed on different occasions as schizophrenic with mild mental retardation. Clinic

Aortic dilatation in Cockayne syndrome

✍ Caroline Ovaert; Aline Cano; Brigitte Chabrol 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 106 KB 👁 1 views

Neuropsychological evaluation in Lujan–F

Neuropsychological evaluation in Lujan–Fryns syndrome: Commentary and clinical report

✍ Marc S. Williams 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 69 KB 👁 1 views

Aortic root dilatation and mitral valve

Aortic root dilatation and mitral valve prolapse in the fragile X syndrome

✍ Loehr, James P. ;Synhorst, David P. ;Wolfe, Robert R. ;Hagerman, Randi J. ;Opitz 📂 Article 📅 1986 🏛 John Wiley and Sons 🌐 English ⚖ 385 KB 👁 1 views

Forty patients with fragile X [fra(X)] or Martin-Bell syndrome, confirmed by chromosome analysis, underwent full cardiac evaluation including physical examination, chest film, electrocardiography (ECG), and M-mode and 2-dimensional echocardiography. Thirty-four males and six females were studied. Al