A late presentation of Loeys-Dietz syndrome: joint hypermobility is not always benign
نویسندگان
چکیده
منابع مشابه
Neuroradiologic Manifestations of Loeys - Dietz Syndrome Type
V.J. Rodrigues S. Elsayed B.L. Loeys H.C. Dietz D.M. Yousem BACKGROUND AND PURPOSE: Loeys-Dietz syndrome (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Its neuroradiologic manifestations have not been well delineated. We sought to describe the neuroradiologic features of LDS and to assess the manifest...
متن کاملPrenatal diagnosis of Loeys-Dietz syndrome.
Introduction ▼ Loeys–Dietz is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. The disease is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate and is caused by heterozygous mutations in the genes encoding transforming growth factor β receptors 1 and 2 (TGFBR1 and TGFBR2, respectively) (B.L. Loeys ...
متن کاملNeurovascular Manifestation of Loeys-Dietz Syndrome: A Case Report
A 5-year-old boy was referred to our hospital for evaluation of headache, tortuous intracranial arteries and vertebral arteries found up on brain magnetic resonance angiography. The patient’s family history was unremarkable for any genetic disease. He was born at 39 weeks of gestation by spontaneous vaginal delivery without complications. His birth weight was 3,580 gm. At 3 years Neurovascular ...
متن کاملLoeys-dietz Syndrome: Perioperative Anesthesia Considerations.
Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disease related to genetic mutations in receptors for the cytokine transforming growth factor-receptor type 1 (TGFB-R1) or 2 gene (TGFB-R2) on the cell surface. LDS results in abnormal protein synthesis and dysfunctional connective tissue, which can result in unique cardiovascular anesthesia challenges related to perioperative management. ...
متن کاملImaging findings in a child with Loeys-Dietz syndrome.
A 3-year-old boy being followed up for bilateral club foot underwent a routine thorax radiography that revealed aortic arch enlargement. Echocardiography showed sinus of Valsalva dilatation. Because of clinical features such as hypertelorism, bifid uvula, and prominent forehead, a genetic investigation was conducted that confirmed Loeys-Dietz syndrome (LDS) by identifying a heterozygous mutatio...
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ژورنال
عنوان ژورنال: Rheumatology
سال: 2013
ISSN: 1462-0324,1462-0332
DOI: 10.1093/rheumatology/ket138