Achard Syndrome
General: All features of Marfan syndrome 848c25i , with the addition of dysostosis mandibulofacialis; arachnodactyly; receding lower jaw; joint laxity limited to the hands and feet; differs from Marfan syndrome in that the skull is broad and brachycephalic with small mandible.
Ocular: Myopia; lens dislocation; spherophakia.
Clinical: Mandibulofacial dysostosis; skeletal anomalies; arachnodactyly; high arched palate; heart disease.
Achard D. Arachnodactylie. Bull Mem Soc Med Hop Paris 1902; 19:834.
Jackson LG. Genetic principles for the ophthalmologist. Trans Am Acad Ophthalmol Otolaryngol 1974; 27:20.
Magalini SI, Scrascia E. Dictionary
of Medical Syndromes, 2nd ed.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Gyrate Atrophy (Ornithine Ketoacid Aminotransferase Deficiency) General: Deficiency of the [...] |
Antiphospholipid Antibody Syndrome (Hughes syndrome) General: Recurrent [...] |
Charcot-Wilbrand Syndrome [...] |
Copyright © 2010 - 2024
: eSanatos.com - Reproducerea, chiar si partiala, a materialelor de pe acest site este interzisa!
Informatiile medicale au scop informativ si educational. Ele nu pot inlocui consultul medicului si nici diagnosticul stabilit in urma investigatiilor si analizelor medicale la un medic specialist.
Termeni si conditii - Confidentialitatea datelor - Contact
Despre diseases |
| Alte sectiuni |
|
Ai o problema medicala? |
