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Ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome).
Am J Dermatopathol
February 2004
Department of Pathology, The University of Texas Southwestern Medical Center, Dallas, Texas 75390-9073, USA.
Prior to the recent characterization of the enzymatic defect and identification of the involved gene, the histopathology of X-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome or CDPX2) has been described under various names including calcinosis universalis, chondrodystrophia calcificans congenita, Conradi disease, and Conradi-Hünermann syndrome. We present two newborns with characteristic ichthyosiform erythroderma noted at birth. Radiographs demonstrated chondrodysplasia punctata in one patient.
View Article and Find Full Text PDFCervical instability in skeletal dysplasia. Report of 6 surgically fused cases.
Acta Orthop Scand
February 1988
Department of Orthopedics, Karolinska Institute University Hospital, Huddinge, Sweden.
Six patients with skeletal dysplasias complicated by deformity or instability of the cervical spine were reviewed. Three patients had congenital spondyloepiphyseal dysplasia and 1 each suffered from Morquio's syndrome, pseudoachondroplasia, and chondrodystrophia calcificans congenita. Four patients had myelopathy of varying severity from slight weakness of one leg to tetraplegia.
View Article and Find Full Text PDFSome neutrophil functions (superoxide anion production, bactericidal activity and chemotaxis) have been examined in four children with Chondrodystrophia Calcificans Congenita. Superoxide anion production and bactericidal activity were in the normal range, but a defect in cellular chemotaxis has been proved. This finding account for predisposition to infection which is frequently present in these patients, and may include this disease among those syndromes in which a deficiency of the immune system is associated with growth failure.
View Article and Find Full Text PDFOs odontoideum in chondrodystrophia calcificans congenita. A case report.
J Bone Joint Surg Am
December 1982
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