Results 111 to 120 of about 3,806 (220)

Arachnodactyly [PDF]

Proceedings of the Royal Society of Medicine, 1932
openaire   +2 more sources

Analisis Kromosom Pada Penderita Dengan Anomali Kongenital Multipel Di Laboratorium Cebior [PDF]

, 2015
Background : Multiple congenital anomalies are structural or functional disorders including two or more organ systems that occured during prenatal period and appear after birth.
Faradz, S. M. (Sultana), Putra, M. S. (Made), Winarni, T. I. (Tri)   +2 more
core  

Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature

Italian Journal of Pediatrics
Background Neonatal Marfan syndrome (nMFS) is a rare condition characterized by severe phenotype and poor prognosis. nMFS is caused by mutations in a specific region of the fibrillin 1 gene (FBN1).
Flaminia Pugnaloni, Domenico Umberto De Rose, Maria Cristina Digilio, Monia Magliozzi, Annabella Braguglia, Laura Valfrè, Alessandra Toscano, Andrea Dotta, Alessandra Di Pede   +8 more
doaj   +1 more source

Marfan syndrome with acute abdomen: a case report

International Journal of General Medicine, 2010
Beyazit ZencirciKahramanmaras Sutcu Imam University Medical Faculty, Department of Anesthesiology and Reanimation Kahramanmaras, TurkeyIntroduction: Marfan syndrome is an autosomal dominant connective tissue disorder characterized by a combination of ...
Beyazit Zencirci
doaj  

Clinical and Phenotypic Correlates of Mitral Valve Prolapse in Marfan Syndrome: The Cornell Aortic Aneurysm Registry

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Mitral valve prolapse (MVP) is highly prevalent in Marfan syndrome (MFS), but its associations with significant valvular regurgitation, the need for mitral valve (MV) surgery or elective aortic root replacement, and the occurrence of aortic ...
Nupoor Narula, Yosef Schwartz, Richard B. Devereux, Xiaoyue Ma, Jonathan W. Weinsaft, Leonard Girardi, Mary J. Roman   +6 more
doaj   +1 more source

Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene

The Turkish Journal of Pediatrics, 2012
We report a 13-year-old girl with Loeys-Dietz syndrome (LDS) caused by a known transforming growth factor beta receptor II (TGFBR2) gene mutation, who developed aortic root dilatation and saccular aneurysm of the internal carotid artery.
Esra Kiliç, Yasemin Alanay, Eda Utine, Burçe Ozgen-Mocan, Peter N Robinson, Koray Boduroğlu   +5 more
doaj  

arachnodactyly

Citation: 'arachnodactyly' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10423 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms. Requests for commercial
openaire   +1 more source

Marfanoid phenotype with intellectual disability associated with NKAP mutation: a case report. [PDF]

J Med Case Rep
Semyachkina AN, Nikolaeva EA, Gritsevskaya DI, Voinova VY, Kuramagomedova RG, Bochenkov SV, Groznova OS, Parfenenko MA, Kalashnikova OV, Isupova EA.   +9 more
europepmc   +1 more source

Arachnodactyly

, 2019
Roland Warner, Abdus Sattar, Patrick Rock   +2 more
openaire   +1 more source

Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants. [PDF]

Eur J Pediatr
Sharaf-Eldin W, Ghorab RM, Rafat K, Mahmoud H, Hassib N, Alahlafi A, Maroofian R, Gleeson JG, Essawi M, Zaki MS.   +9 more
europepmc   +1 more source