Polytopic anomalies with agenesis of the lower vertebral column

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 a...

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Bibliographic Details
Published in:American journal of medical genetics 1999-11, Vol.87 (2), p.99-114
Main Authors: 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., van Langen, Irene M., Viskochil, David H., Wiedemann, Hans-Rudolf, Opitz, John M.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnostic imaging
Abnormalities, Multiple - embryology
Abnormalities, Multiple - mortality
Adult
Biological and medical sciences
blastogenesis
Consanguinity
developmental field
Diseases of the osteoarticular system
Fatal Outcome
Female
Fetus - abnormalities
Fetus - diagnostic imaging
Gestational Age
Humans
Infant
Infant, Newborn
Lumbar Vertebrae - abnormalities
Lumbar Vertebrae - diagnostic imaging
Lumbar Vertebrae - embryology
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
polytopic field defect
progenitor field
Radiography
Syndrome
vertebral agenesis
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Description
Summary: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. 87:99–114, 1999. © 1999 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(19991119)87:2<99::AID-AJMG1>3.0.CO;2-Q