Pentasomy X with multiple dislocations
| Autor: | Randall F. Dryer, Shivanand R. Patil, Hans U. Zellweger, Jane M. Simpson, James W. Hanson, Carol Aschenbrenner, Stuart L. Weinstein, Uta Francke |
|---|---|
| Rok vydání: | 1979 |
| Předmět: |
musculoskeletal diseases
X Chromosome Materials science Shoulder Dislocation Joint Dislocations Syndrome Anatomy medicine.disease Hypoplasia Diagnosis Differential MULTIPLE DISLOCATIONS Elbow dislocation Intellectual Disability medicine Humans Abnormalities Multiple Female Larsen syndrome Dislocation Child Sex Chromosome Aberrations Genetics (clinical) |
| Zdroj: | American Journal of Medical Genetics. 4:313-321 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320040402 |
| Popis: | We describe a pentasomy X (49,XXXXX) patient whose multiple dislocations led to a consideration of the Larsen syndrome. Review of the 11 reported cases of pentasomy X showed that elbow dislocations are known to occur in this syndrome. Our patient is the first to present hypoplasia of the glenoid process with consequent shoulder dislocation. Clinical and radiologic findings of previously reported cases of pentasomy X are reviewed. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text