Improving Clinical Recognition of Marfan Syndrome
- Diagnosing Marfan syndrome. Super, Maurice // British Medical Journal (Clinical Research Edition);5/14/1988, Vol. 296 Issue 6633, p1347
Evaluates the value of diagnosing Marfan syndrome. Complications of the syndrome on the heart; Reasons of diagnosing Marfan syndrome on cardiac and genetic concerns; Prevention and treatment of cardiac complications.
- INHERITED DEFECTS INVOLVING JOINTS. // Annals of Internal Medicine;Nov64 Part 2, Vol. 61 Issue 5, p60
Discusses inherited defects involving joints. Ehlers-Danlos syndrome; Morquio-Brailsford syndrome; Arthrogryposis.
- CONGENITAL DEFECTS INVOLVING JOINTS. // Annals of Internal Medicine;May62 Part 2, Vol. 56 Issue 5, p107
Focuses on several types of congenital defects involving joints. Ehlers-Danlos syndrome; Morquio-Brailsford syndrome; Arthrogryposis Multiplex Congenita; Gargoylism.
- Neonatal marfan syndrome with hiatus hernia and intrathoracic stomach. Herman, T E; Siegel, M J; Mathur, A; Vachharajani, A // Journal of Perinatology;Aug2013, Vol. 33 Issue 8, p652
The case study of a 3040gram infant born to an 18 year old mother is presented. The mother was being treated for marfan syndrome and dilated aortic root with atenolol during pregnancy. The infant suffered from a mild respiraotry distress at the time of birth. Doctors instantly put him on...
- Outcome of aortic surgery in patients with Loeysâ€“Dietz syndrome primarily treated as having Marfan syndromeâ€ . Schoenhoff, Florian S.; Mueller, Christoph; Czerny, Martin; Matyas, Gabor; Kadner, Alexander; Schmidli, Juerg; Carrel, Thierry // European Journal of Cardio-Thoracic Surgery;Sep2014, Vol. 46 Issue 3, p444
OBJECTIVES Loeysâ€“Dietz syndrome (LDS) is characterized by acute aortic dissection (AAD) at aortic diameters below thresholds for intervention in patients with Marfan syndrome (MFS). The aim was to evaluate the outcome of LDS patients primarily treated as having MFS. METHODS We analysed 68...
- Evaluation of Vertical Deviations Secondary to Anatomical Abnormalities. Rovick, Lisa P. // American Orthoptic Journal;2011, Vol. 61, p34
Vertical strabismus secondary to anatomical abnormalities includes orbital anomalies leading to rotation of the extraocular muscle cone, converting the horizontal rectus muscles from adductors and abductors to elevators and depressors. Craniofacial syndromes also may include anomalous or absent...
- Atlas-based white matter analysis in individuals with velo-cardio-facial syndrome (22q11.2 deletion syndrome) and unaffected siblings. Radoeva, Petya D.; Coman, Ioana L.; Antshel, Kevin M.; Fremont, Wanda; McCarthy, Christopher S.; Kotkar, Ashwini; Dongliang Wang; Shprintzen, Robert J.; Kates, Wendy R. // Behavioral & Brain Functions;2012, Vol. 8 Issue 1, p38
Background: Velo-cardio-facial syndrome (VCFS, MIM#192430, 22q11.2 Deletion Syndrome) is a genetic disorder caused by a deletion of about 40 genes at the q11.2 band of one copy of chromosome 22. Individuals with VCFS present with deficits in cognition and social functioning, high risk of...
- Ocular findings in children with a microdeletion in chromosome 22q11.2. Casteels, Ingele; Casaer, Patricia; Gewillig, Marc; Swillen, Ann; Devriendt, Koenraad // European Journal of Pediatrics;Jul2008, Vol. 167 Issue 7, p751
A microdeletion in chromosome 22q11.2 is one of the most frequent genetic syndromes. The phenotypic manifestations vary widely, which has led to its initial description as apparently different clinical entities, such as the velocardiofacial syndrome (VCFS) and DiGeorge syndrome. Characteristic...
- A Case Of Pachydermoperiostosis And Overriding Forth Toes. Ozmen, S.; Tuzcu, A.; Ozmen, C.A.; Bahceci, M. // Internet Journal of Rheumatology;2005, Vol. 2 Issue 1, p2
Primary hypertrophic osteoarthropathy is a disorder with clubbing of digits, of thickened skin and periosteal new bone formation prominently in distal ends of the limbs. We present a case with characteristic components of the disease, bilateral congenital overriding of the forth toes, a finding...