The Weissenbacher-Zweymuller syndrome A case report with review of the world literature

Cortina, H.; Aparicil, R.; Beltran, J. Benitez; Alberto, Carlos

doi:10.1007/bf00973533

Cited by 16 publications

References 4 publications

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Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweym�ller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

Pihlajamaa

Prockop

Faber³

et al. 1998

Am. J. Med. Genet.

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The original patient with the Weissenbacher-Zweymüller syndrome was analyzed for mutations in two candidate genes expressed in cartilage (COL2A1 and COL11A2). No mutations were found in the COL2A1 gene but the COL11A2 gene contained a single-base mutation that converted a codon for an obligate glycine to a codon for glutamate at position alpha 2-955 (G955E). The results here and those published previously indicate that the Weissenbacher-Zweymüller syndrome (heterozygous OSMED), nonocular Stickler syndrome, and homozygous OSMED are all caused by mutations in the COL11A2 gene.

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Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweym�ller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

Pihlajamaa

Prockop

Faber³

et al. 1998

Am. J. Med. Genet.

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Kniest dysplasia: Neonatal death with necropsy

et al. 1980

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We describe a premature female infant with Kniest dysplasia, who died shortly after birth. This appears to be the first autopsy performed in this condition. Manifestations included neonatal respiratory distress, large head, midface hypoplasia, flat nasal bridge, short nose, micrognathia, cleft palate, short neck, micromelia, and mildly bowed limbs. Roentgenologic findings included short, slightly bowed tubular bones with metaphyseal flare; mild platyspondyly, with vertical clefts of vertebral bodies; small iliac bones with increased acetabular angles; and inadequate ossification of pubic rami. Histopathologic findings of cartilage included focal "Swiss-cheese" pattern; disorganized physeal growth zone; and PAS-positive, diastase-resistant intracytoplasmic inclusions, which corresponded to finely granular material accumulated in dilated cisterns of rough endoplasmic reticulum.

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Weissenbacher‐Zweymüller syndrome: A distinct autosomal recessive skeletal dysplasia

Chemke¹,

Carmi²,

Galil³

et al. 1992

Am. J. Med. Genet.

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The Weissenbacher-Zweymüller syndrome (WZS) is defined as congenital neonatal rhizomelic dwarfism with metaphyseal widening of the long bones and vertebral coronal clefts. Catch-up growth after 2-3 years is one of the striking manifestations. It is generally thought that WZS is a neonatal expression of the Stickler syndrome, even though in the latter, myopia, retinal detachment and a progressive metaphyseal dysplasia are characteristics that are not found in WZS. A critical analysis of all published patients with WZS in addition to 5 patients in 3 new families, shows that the WZS is a distinct syndrome of delayed skeletal maturation, different from the Stickler syndrome, and inherited as an autosomal recessive trait. The recognition of its unique characteristics has important implications in genetic counseling.

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The Weissenbacher-Zweymuller syndrome A case report with review of the world literature

Cited by 16 publications

References 4 publications

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweym�ller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweym�ller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

Kniest dysplasia: Neonatal death with necropsy

Weissenbacher‐Zweymüller syndrome: A distinct autosomal recessive skeletal dysplasia

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