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Leon A. Metlay - One of the best experts on this subject based on the ideXlab platform.

  • Prenatal sonographic diagnosis of non-rhizomelic Chondrodysplasia punctata.
    Obstetrics & Gynecology, 1994
    Co-Authors: David M. Sherer, Tamara Allen, Lonardo F, Leon A. Metlay
    Abstract:

    BACKGROUND Chondrodysplasia punctata is a rare heterogeneous group of bone dysplasias occurring with an incidence of one in 100,000 live births. Prenatal sonographic diagnosis of non-rhizomelic Chondrodysplasia punctata (Conradi-Hunermann syndrome) has previously been reported only following detection of overall limb shortening. CASE Multiple sonographic skeletal findings of premature epiphyseal calcifications, other unusual calcifications, kyphoscoliosis, and asymmetrical limb shortening, typical of non-rhizomelic Chondrodysplasia punctata, led to second-trimester prenatal sonographic diagnosis of this condition. CONCLUSION Second-trimester prenatal sonographic diagnosis of premature epiphyseal calcifications associated with non-rhizomelic Chondrodysplasia punctata is possible.

  • Prenatal sonographic diagnosis of non-rhizomelic Chondrodysplasia punctata.
    Obstetrics and gynecology, 1994
    Co-Authors: David M. Sherer, J C Glantz, T A Allen, F Lonardo, Leon A. Metlay
    Abstract:

    Chondrodysplasia punctata is a rare heterogeneous group of bone dysplasias occurring with an incidence of one in 100,000 live births. Prenatal sonographic diagnosis of non-rhizomelic Chondrodysplasia punctata (Conradi-Hünermann syndrome) has previously been reported only following detection of overall limb shortening. Multiple sonographic skeletal findings of premature epiphyseal calcifications, other unusual calcifications, kyphoscoliosis, and asymmetrical limb shortening, typical of non-rhizomelic Chondrodysplasia punctata, led to second-trimester prenatal sonographic diagnosis of this condition. Second-trimester prenatal sonographic diagnosis of premature epiphyseal calcifications associated with non-rhizomelic Chondrodysplasia punctata is possible.

David M. Sherer - One of the best experts on this subject based on the ideXlab platform.

  • Prenatal sonographic diagnosis of non-rhizomelic Chondrodysplasia punctata.
    Obstetrics & Gynecology, 1994
    Co-Authors: David M. Sherer, Tamara Allen, Lonardo F, Leon A. Metlay
    Abstract:

    BACKGROUND Chondrodysplasia punctata is a rare heterogeneous group of bone dysplasias occurring with an incidence of one in 100,000 live births. Prenatal sonographic diagnosis of non-rhizomelic Chondrodysplasia punctata (Conradi-Hunermann syndrome) has previously been reported only following detection of overall limb shortening. CASE Multiple sonographic skeletal findings of premature epiphyseal calcifications, other unusual calcifications, kyphoscoliosis, and asymmetrical limb shortening, typical of non-rhizomelic Chondrodysplasia punctata, led to second-trimester prenatal sonographic diagnosis of this condition. CONCLUSION Second-trimester prenatal sonographic diagnosis of premature epiphyseal calcifications associated with non-rhizomelic Chondrodysplasia punctata is possible.

  • Prenatal sonographic diagnosis of non-rhizomelic Chondrodysplasia punctata.
    Obstetrics and gynecology, 1994
    Co-Authors: David M. Sherer, J C Glantz, T A Allen, F Lonardo, Leon A. Metlay
    Abstract:

    Chondrodysplasia punctata is a rare heterogeneous group of bone dysplasias occurring with an incidence of one in 100,000 live births. Prenatal sonographic diagnosis of non-rhizomelic Chondrodysplasia punctata (Conradi-Hünermann syndrome) has previously been reported only following detection of overall limb shortening. Multiple sonographic skeletal findings of premature epiphyseal calcifications, other unusual calcifications, kyphoscoliosis, and asymmetrical limb shortening, typical of non-rhizomelic Chondrodysplasia punctata, led to second-trimester prenatal sonographic diagnosis of this condition. Second-trimester prenatal sonographic diagnosis of premature epiphyseal calcifications associated with non-rhizomelic Chondrodysplasia punctata is possible.

Sandra Y. Lin - One of the best experts on this subject based on the ideXlab platform.

  • Severe tracheobronchial stenosis in the X-linked recessive form of Chondrodysplasia punctata.
    Archives of otolaryngology--head & neck surgery, 2004
    Co-Authors: Matthew E. Wolpoe, Nancy Braverman, Sandra Y. Lin
    Abstract:

    The X-linked recessive form of Chondrodysplasia punctata, characterized by Chondrodysplasia and punctate calcification of cartilage, is caused by a defect in the vitamin K-dependent enzyme arylsulfatase E. We herein describe a male infant with Chondrodysplasia punctata and stenosis and calcification of the entire trachea and main bronchi. To our knowledge, this is the first case of Chondrodysplasia punctata reported in the English literature with such extensive airway manifestations.

Rja Wanders - One of the best experts on this subject based on the ideXlab platform.

  • Non-rhizomelic and rhizomelic Chondrodysplasia punctata within a single complementation group.
    Biochimica et biophysica acta, 1996
    Co-Authors: Alison M. Motley, Peter G. Barth, Bwee Tien Poll-the, Henk F. Tabak, Jan A.m. Smeitink, Rja Wanders
    Abstract:

    Several patients have been described recently who suffer from a non-rhizomelic type of Chondrodysplasia punctata (CDP), but who show all the biochemical abnormalities characteristic of the rhizomelic form of Chondrodysplasia punctata (RCDP), a peroxisomal disorder. We have used protease protection experiments and microinjection of reporter-protein-encoding expression plasmids to show that peroxisomal thiolase fails to be imported into peroxisomes in cells from non-rhizomelic CDP patients, as has already been found in cells from classical RCDP patients. Furthermore, complementation analysis after somatic cell fusion indicates that the non-rhizomelic CDP patients are impaired in the same gene as classical RCDP patients. We conclude that defects in a single gene can give rise to both clinical phenotypes.

  • Chondrodysplasia punctata with a mild clinical course
    Journal of Inherited Metabolic Disease, 1994
    Co-Authors: J. M. Nuoffer, Rbh Schutgens, Rja Wanders, J. P. Pfammatter, A. Spahr, H. Toplak, U. N. Wiesmann
    Abstract:

    We report a 7-year-old patient with Chondrodysplasia punctata but without rhizomelia. He was born with typical clinical and radiological symptoms of this disease. He developed slowly with considerable psychomotor retardation but improved later, gaining some speech and psychosocial contacts. Joint contractures and bilateral cataracts are still major problems. De novo plasmalogen synthesis in fibroblasts was greatly reduced and DHAP-AT activity was at the lower limit of controls. Peroxisomal thiolase was present in its precursor form only. Membrane fluidity (measured by TMA-DPH fluorescence anisotropy) was increased in erythrocyte ghosts and in lymphocytes. Plasma phytanic acid concentration was elevated 5-fold. The patient represents a mild clinical course of Chondrodysplasia punctata, resembling Conradi-Hünermann syndrome, but biochemically he has the typical peroxisomal dysfunction of rhizomelic Chondrodysplasia punctata except for a high residual activity of DHAP-AT.

  • X-linked recessive Chondrodysplasia punctata with XY translocation in a stillborn fetus.
    Human genetics, 1991
    Co-Authors: L. Van Maldergem, Rja Wanders, Marc Espeel, Frank Roels, Christine Petit, Georges Dacremont, Alain Verloes, Yves Gillerot
    Abstract:

    A case of X-linked recessive Chondrodysplasia punctata (CP) is described. The finding of a reciprocal X-Y translocation involving the region distal to Xp22.3 and the presence of fluorescent Yp11.23 regions confirms the localization of X-linked recessive CP at p22.3. No gross peroxisomal abnormalities were present in the propositus.

H.-r. Wiedemann - One of the best experts on this subject based on the ideXlab platform.

  • Dominant sex-linked inherited Chondrodysplasia punctata: a distinct type of Chondrodysplasia punctata.
    Clinical genetics, 2008
    Co-Authors: H. Manzke, E. Christophers, H.-r. Wiedemann
    Abstract:

    This paper suggests that there is probably a dominant, sex-linked type of Chondrodysplasia punctata. Clinical data are reported for three girls with such a disorder. Two of their mothers showed a mild form of cicatricial alopecia. The pathognomonic dermatological findings in the children include crythematous skin changes and striated ichthyosiform hyperkeratosis during the first months of life. Later on, patterned ichthyosis, follicular atrophoderma, coarse, lusterless hair and cicatricial alopecia become evident. It is assumed that about one fourth of all cases with Chondrodysplasia punctata reported in the literature belong to the dominant sex-linked type.