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The Korean Journal of Pathology 1997;31(5): 482-488.
Achondrogenesis Type 2: An autopsy case.
Joon Mee Kim, Young Chae Chu, Soo Kee Min, Hee Jeung Cha, Je Geun Chi
1Department of Pathology, Inha University.
2Seoul National University, College of Medicine, Seoul 110-799, Korea.
ABSTRACT
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.
Key Words: Achondrogenesis type 2; Congenital skeletal dysplasia
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