Achondrogenesis Type 2: An autopsy case.
- Author:
Joon Mee KIM
;
Young Chae CHU
;
Soo Kee MIN
;
Hee Jeung CHA
;
Je Geun CHI
- Publication Type:Case Report
- Keywords:
Achondrogenesis type 2;
Congenital skeletal dysplasia
- MeSH:
Abdomen;
Autopsy*;
Chondrocytes;
Dwarfism;
Female;
Femur;
Fetus;
Head;
Humans;
Ilium;
Ischium;
Lower Extremity;
Neck;
Pregnancy;
Skull;
Tibia
- From:Korean Journal of Pathology
1997;31(5):482-488
- CountryRepublic of Korea
- Language:Korean
-
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.
