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axial mesodermal dysplasia

axial mesodermal dysplasia complex (AMDC)

 

Definition: group of polymalformative syndromes associating widespread anomalies in the cranial and caudal regions.

Synopsis

-  oculoauriculovertebral syndrome

-  caudal regression sequence

Genetics

-  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#



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