Avtor/Urednik		Canki-Klain, N; Stanescu, V; Stanescu, R; Šinkovec, J; Debevec, M; Maroteaux, P
Naslov		Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe "boomerang dysplasia"?
Tip		članek
Vir		Ann Genet
Vol. in št.		Letnik 35, št. 3
Leto izdaje		1992
Obseg		str. 129-33
Jezik		eng
Abstrakt		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).
Deskriptorji		ABNORMALITIES, MULTIPLE MONSTERS THANATOPHORIC DYSPLASIA INFANT, NEWBORN PEDIGREE