| Autor: |
Bohring, Axel, Lewin, Susan O., Reynolds, James F., Voigtländer, Theda, Rittinger, Olaf, Carey, John C., Köpernik, Michael, Smith, Rosemarie, Zackai, Elaine H., Leonard, Norma J., Gritter, Hilda L., Bamforth, J. Stephen, Okun, Nannette, McLeod, D. Ross, Super, Maurice, Powell, Peter, Mundlos, Stefan, Hennekam, Raoul C.M., Langen, Irene M. van, Viskochil, David H., Wiedemann, Hans-Rudolf |
| Zdroj: |
American Journal of Medical Genetics. Part A; 19 November 1999, Vol. 87 Issue: 2 p99-114, 16p |
| Abstrakt: |
We describe clinical, pathological and radiological findings in 15 cases of sporadic and familial lower spine agenesis with additional anomalies of the axial skeleton and internal organs and speculate about the cause and pathogenesis of this malformation complex. We show that all of these findings are defects of blastogenesis, originate in the primary developmental field and/or the progenitor fields, thus representing polytopic field defects. This concept appears applicable in our cases and makes such terms such as caudal regression syndrome or axial mesodermal dysplasia spectrum redundant. Am. J. Med. Genet. 87:99114, 1999. © 1999 Wiley-Liss, Inc. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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