A Rare case report of fetal autopsy - ACHONDROGENESIS TYPE II (LANGER SALDINO) Medical Science

Achondrogenesis type II is a type of short trunk osteochondrodyplasia, an autosomal dominant type 2 collagenopathy with an incidence of 1 in 40,000 births and is invariably fatal in perinatal period. 2 . It is a type II collagenopathy due to mutation in COL2A1 gene located on chromosome 12q3, 1-13.3 3 .Clinical features are uaually extremely short trunk and extremities along with car- diac abnormalities like patent ductus arteriosus, atrial septal defects and ventricular septal defects. Hydropic appearance and polyhydromnios is present. The major radiological find- ings are markedly deficient ossification in the vertebral bod- ies which are frequently absent in the lumbosacral region and absence of pubic and ischial ossification. ACG II has bet- ter ossified ilia and limb bones that exhibit flared and cupped metaphyseal ends with well ossified cranial bones and there are no rib fractures.Histopathologically changes in the resting cartilage are characteristic with deficient matrix, markedly enlarged lacunae 4 and perichondrocytic collagen rings . There is increased population of chondrocytes which may or may not be ballooned out. The canals of the resting cartilage are markedly enlarged, stellate in shape and fibrotic. The growth zone is retarded and disorganised. Immunohistochemical and microchemical studies suggests ACG II is a disorder of type II collagen biosynthesis 5.