Cardiac findings in Weill-Marchesani syndrome [2]

American Journal of Medical Genetics, Part A

Volumn 143, Issue 17, 2007, Pages 2062-2064

  Kojuri, Javad ^a   Razeghinejad, Mohammad Reza ^b   Aslani, Amir ^a  

^a SHIRAZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b SHIRAZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIFUNGAL AGENT; ANTIHISTAMINIC AGENT; ANTIINFECTIVE AGENT; TRICYCLIC ANTIDEPRESSANT AGENT; DORZOLAMIDE; LATANOPROST; TIMOLOL;

ADULT; AUTOSOMAL DOMINANT INHERITANCE; BRACHYDACTYLY; CARDIOVASCULAR SYSTEM; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ELECTROCARDIOGRAPHY; EXTRACELLULAR MATRIX; FEMALE; GENE MUTATION; HEART RHYTHM; HUMAN; JOINT FUNCTION; LETTER; MALE; MITRAL VALVE PROLAPSE; MYOPIA; PERICARDIAL EFFUSION; PR INTERVAL; PRIORITY JOURNAL; QRS COMPLEX; SHORT STATURE; ST SEGMENT; WEILL MARCHESANI SYNDROME; AORTA VALVE REPLACEMENT; AORTA VALVE STENOSIS; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; ECG ABNORMALITY; ECTOPIA LENTIS; ELECTROLYTE DISTURBANCE; EYE MALFORMATION; GLAUCOMA; HEART DISEASE; SKELETON MALFORMATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CONNECTIVE TISSUE DISEASES; FEMALE; GROWTH DISORDERS; HEART DISEASES; HUMANS; SYNDROME;

EID: 34548314469     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31861     Document Type: Letter

References (11)

1. Asaoka R, Kato M, Suami M, Usami M, Hotta Y, Sato M. 2003. Chronic angle closure glaucoma secondary to frail zonular fibers and spherophakia. Acta Ophthalmol Scand 81:533-535.
2. Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Megarbane A, Alswaid A, Dollfus H, Alembik Y, Munnich A, Legeai-Mallet L, Cormier-Daire V. 2004. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet 75:801-806.
3. Dietlein TS, Jacobi PC, Krieglstein GK. 1998. Ciliary body is not hyperplastic in Weill Marchesani syndrome. Acta Ophthalmol Scand 76:623-624.
4. Faivre L, Dollfus H, Lyonnet S, Alembik Y, Megarbane A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le Merrer M, Munnich A, Cormier-Daire V. 2003a. Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet Part A 123A:204-207.
5. Ferrier S, Nussle D, Friedli B, Ferrier PE. 1980. Marchesani's syndrome (spherophakia-brachymorphism). Helv Paediatr Acta 35:185-198.
6. Freed LA, Benjamin EJ, Levy D, Larson MG, Evans JC, Fuller DL, Lehman B, Levine RA. 2002. Mitral valve prolapse in the general population: The benign nature of echocardiography features in the Framingham Heart Study. J Am Coll Cardiol 40:1298-1304.
7. Harasymowycz P, Wilson R. 2004. Surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani syndrome. J Pediatr Ophthalmol Strabismus 41:295-299.
8. Marchesani O. 1939. Brachydaktylie und angeborene kugellines als systemerkrankung. Klin Mibl Augenheilk 103:392-406.
9. Megarbane A, Mustapha M, Bleik J, Waked N, Delague V, Loiselet J. 2000. Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family. Clin Genet 58:473-478.
10. Razeghinejad MR, Safavian H. 2006. Central corneal thickness in patients with Weill Marchesani syndrome. Am J Ophthalmol 142:507-508.
11. Weill G. 1932. Ectopie du cristallin et malformations générales. Ann Ocul 169:21-44.