Lethal Form of Congenital Short Limbed Dwarfism; (Morphological Analysis of 14 Autopsy Cases)

Abstract

We examined the clinico-pathologic features and radiographic findings of a total of 14 qutopsy cases of congenital short-limbed dwarfism in an attempt to identify the morphological features of diagnostic significance. They included one case each of achondrogenesis type I, achondroplasia, short rib-polydactyly syndrome, chondrodystrophia calcificans congenita, and 3 cases of thanatophoric dwarfism, and 8 cases of osteogenesis imperfecta fetalis. All cases were born dead or died in a first few days of life because of respiratory distress produced by short and narrow thoraces. Birth weights were generally low for their gestational age. A striking feature was the discrepancy between the relatively long, narrow trunk and the extremely short extremities. They had a relatively large head with frontal bossing, and flattened nasal bridge. The pathological observation of these materials demonstrated that the majority of chondrodysplasia were distinct abnormalities in the endochondral osification. There were subtle but definite differences in the degree of involvement of endochondral ossification. We presented clinical, radiological and morphologic features observed in six different types of osteochondrodysplasia and discussed characteristic differential features of congenital short limbed dwarfism.