Author/Editor		Canki-Klain, N; Stanescu, V; Stanescu, R; Šinkovec, J; Debevec, M; Maroteaux, P
Title		Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe "boomerang dysplasia"?
Type		članek
Source		Ann Genet
Vol. and No.		Letnik 35, št. 3
Publication year		1992
Volume		str. 129-33
Language		eng
Abstract		The authors report a case of lethal neonatal dwarfism characterized by striking micromelia, fused rudimentary and supernumerary digits, large, soft head, pronounced hypertelorism, protruding eyes set laterally, enormous omphalocele and severe deficiency of tubular bone and spine ossification. Histologic examination showed lack of ossification of the cartilaginous anlage of many tubular bones. The cartilage had irregularly distributed chondrocytes. The matrix contained hypocellular and degenerated areas with scattered large chrondrocytes. In a few bones a very disorganized growth cartilage was present. The case is similar to that described by Piepkorn et al. ( 1977) and may represent a severe form of "boomerang dysplasia" (Kozlowski et al., 1981; Tenconi et al., 1983 ; Kozlowski et al., 1985 ; Winship et al., 1990).
Descriptors		ABNORMALITIES, MULTIPLE MONSTERS THANATOPHORIC DYSPLASIA INFANT, NEWBORN PEDIGREE