Definition: group of polymalformative syndromes associating widespread anomalies in the cranial and caudal regions.
Synopsis
oculoauriculovertebral syndrome
caudal regression sequence
possible autosomal recessive inheritance (#10649806#)
diabetic mother (#8775416#)
See also
VACTERL association (VATER association) (#12910495#)
References
Merchant SN, Naimi TS, Khan A, Nadol JB Jr, Holmes LB. Axial mesodermal dysplasia sequence: autopsy findings. Clin Dysmorphol. 2004 Jan;13(1):21-4. PMID: #15127759#
Physiopathology hypothesis
generalized alteration in mesodermal cell migration during the primitive streak period > axial mesodermal dysplasia spectrum (Russell et al., 1981)
References
Stewart FJ, Nevin NC, Brown S. Axial mesodermal dysplasia spectrum. Am J Med Genet. 1993 Feb 15;45(4):426-9. PMID: #8465843#