Oculo-auriculo-vertebral spectrum: cranial and vertebral malformations due to focal disturbed chondrogenesis.
Microradiographic and histological analyses point out a focal disturbed chondrogenesis of both the skull base and the axial skeleton in a case of oculo-auriculo-vertebral spectrum. Cartilage showed disturbed endochondral ossification with defects in calcification, deficient resorption, and abnormal crumpled areas of mineralized cartilage.
Goret-Nicaise
M
M
Human Anatomy Research Unit, Faculty of Medicine, University of Louvain (UCL), Brussels, Belgium.
Baertz
G
G
Saussoy
P
P
Dhem
A
A
D002869:Chromosome Aberrations / Q000473:pathology*; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002881:Chromosomes, Human, Pair 12; D006053:Goldenhar Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology*; D006330:Heart Defects, Congenital / Q000150:complications / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008159:Lumbar Vertebrae / Q000002:abnormalities; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics / Q000473:pathology*; D019291:Skull Base / Q000002:abnormalities