Axial mesodermal dysplasia complex: a new case with parental consanguinity.
A female is described with axial mesodermal dysplasia complex (AMDC) born to a consanguineous couple. This is thought to be the first description of a patient with AMDC born to consanguineous parents.
Mota
C R
CR
Azevedo
M
M
Rocha
G
G
Manuela
F
F
Coelho
R
R
Lima
M R
MR
D003241:Consanguinity; D004423:Ear / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D008648:Mesoderm; D013131:Spine / Q000002:abnormalities*