Polytopic anomalies with agenesis of the lower vertebral column

Axel Bohring, Susan O. Lewin, James F. Reynolds, Theda Voigtländer, Olaf Rittinger, John C. Carey, Michael Köpernik, Rosemarie Smith, Elaine H. Zackai, Norma J. Leonard, Hilda L. Gritter, J. Stephen Bamforth, Nannette Okun, D. Ross McLeod, Maurice Super, Peter Powell, Stefan Mundlos, Raoul C.M. Hennekam, Irene M. Van Langen, David H. ViskochilHans-Rudolf Wiedemann, John M. Opitz

Research output: Contribution to journalArticleAcademicpeer-review

48 Citations (Scopus)

Abstract

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.
Original languageEnglish
Pages (from-to)99-114
Number of pages16
JournalAmerican Journal of Medical Genetics
Volume87
Issue number2
DOIs
Publication statusPublished - 28-Jul-1999

Keywords

  • Developmental
  • Polytopic field defect
  • Vertebral agenesis
  • agenesis
  • article
  • caudal regression syndrome
  • clinical article
  • echography
  • female
  • fetus
  • human
  • infant
  • male
  • nuclear magnetic resonance imaging
  • physical examination
  • priority journal
  • spine

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