title: Polytopic anomalies with agenesis of the lower vertebral column.
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.
authors.affiliation: Department of Pediatrics, Ostholstein Kliniken, Eutin, Germany. Abohring@aol.com
authors.forename: A
authors.initials: A
authors.lastname: Bohring
authors.forename: S O
authors.initials: SO
authors.lastname: Lewin
authors.forename: J F
authors.initials: JF
authors.lastname: Reynolds
authors.forename: T
authors.initials: T
authors.lastname: Voigtländer
authors.forename: O
authors.initials: O
authors.lastname: Rittinger
authors.forename: J C
authors.initials: JC
authors.lastname: Carey
authors.forename: M
authors.initials: M
authors.lastname: Köpernik
authors.forename: R
authors.initials: R
authors.lastname: Smith
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
authors.forename: N J
authors.initials: NJ
authors.lastname: Leonard
authors.forename: H L
authors.initials: HL
authors.lastname: Gritter
authors.forename: J S
authors.initials: JS
authors.lastname: Bamforth
authors.forename: N
authors.initials: N
authors.lastname: Okun
authors.forename: D R
authors.initials: DR
authors.lastname: McLeod
authors.forename: M
authors.initials: M
authors.lastname: Super
authors.forename: P
authors.initials: P
authors.lastname: Powell
authors.forename: S
authors.initials: S
authors.lastname: Mundlos
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
authors.forename: I M
authors.initials: IM
authors.lastname: van Langen
authors.forename: D H
authors.initials: DH
authors.lastname: Viskochil
authors.forename: H R
authors.initials: HR
authors.lastname: Wiedemann
authors.forename: J M
authors.initials: JM
authors.lastname: Opitz
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000196:embryology / Q000401:mortality; D000328:Adult; D003241:Consanguinity; D017809:Fatal Outcome; D005260:Female; D005333:Fetus / Q000002:abnormalities / Q000000981:diagnostic imaging; D005865:Gestational Age; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008159:Lumbar Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000196:embryology; D008297:Male; D011859:Radiography; D013577:Syndrome