mortality/aging
• died within 12 hours of birth
• no obvious abnormalities in major organs
|
skeleton
• the cartilaginous base was extended dorsally, esp. at the base of parietal bones
|
• the basioccipital bone was abnormally shaped and reduced in size
|
• the frontal bone plates were further apart from each other
|
• ectopic cartilaginous material was present in the interfrontal region
|
• the supraoccipital bone showed reduced mineralization
|
• slightly reduced appendicular long bones particularly in the mineralized region
|
• hypoplastic
|
• ectopic cartilaginous material in the interfrontal and sagittal suture regions and in the elbow joint
|
• ectopic cartilaginous material in the interfrontal and sagittal suture regions and in the elbow joint
• synovial chondroid metaplasia
• partial joint fusions in tarsal and carpal elements
• no gross joint defects
|
• ectopic cartilage nodules were present within the midline sutures
|
fused joints
(
J:119030
)
• partial joint fusions in tarsal and carpal elements
|
• an ectopic Alcian Blue-positive nodule in the elbow region
|
• altered chondrocyte maturation
|
craniofacial
• the cartilaginous base was extended dorsally, esp. at the base of parietal bones
|
• ectopic cartilage nodules were present within the midline sutures
|
• the basioccipital bone was abnormally shaped and reduced in size
|
• the frontal bone plates were further apart from each other
|
• ectopic cartilaginous material was present in the interfrontal region
|
• the supraoccipital bone showed reduced mineralization
|