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Case Report
- Achondrogenesis Type 2: An autopsy case.
- Joon Mee Kim, Young Chae Chu, Soo Kee Min, Hee Jeung Cha, Je Geun Chi
- Korean J Pathol. 1997;31(5):482-488.
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Abstract
PDF - Achondrogenesis type 2 is a lethal form of congenital skeletal dysplasia characterized by severe short-limbed dwarfism, decreased vertebral ossification and normal ossification of the skull. We report an autopsy case of achondrogenesis type 2 in a female fetus terminated at 29 weeks of gestation. External morphology revealed a relatively large head, short upper and lower extremities, short neck, and distended abdomen. The x-ray finding showed normal calvarial ossification, hypoplastic ilium and unossified ischium, and metaphyseal flares of the femur and tibia. Histologically, chondrocytes were large and irregular with increased vascularity.
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