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Lethal Form of Congenital Short Limbed Dwarfism; (Morphological Analysis of 14 Autopsy Cases) : 단지흥을 특징으로 하는 선천성 골격 이형성증(14부검례의 형태학적 분석)

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Suh, Yeon-Lim; Chi, Je G.

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Seoul National University College of Medicine
Seoul J Med, Vol.28 No.3, pp. 199-218
Skeletal dysplaisaShort limbs dwarfismOsteogenesis imperfecta achondrogenesisChondrodystrophia celcificens congenitaShort rib-polydactyly syndromeThanatophoric dwarfismAchondroplasia
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.
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