The Experts below are selected from a list of 327 Experts worldwide ranked by ideXlab platform

Charles J. Lockwood - One of the best experts on this subject based on the ideXlab platform.

  • Walker Warburg Syndrome prenatal ultrasound findings
    Prenatal Diagnosis, 1993
    Co-Authors: Nidhi Vohra, Alessandro Ghidini, Manuel Alvarez, Charles J. Lockwood
    Abstract:

    The prenatal sonographic findings in a case of Walker-Warburg Syndrome are described. The patient was not at risk for this condition. Ultrasound examination at 34 weeks' gestation revealed hydrocephaly, Dandy-Walker anomaly, and striking ocular abnormalities. From a review of the literature it appears that while intracranial abnormalities can lead to the diagnosis in cases at risk for this Syndrome, ocular abnormalities are rather characteristic for this Syndrome and they should be searched for in every case of hydrocephaly or encephalocele.

  • Walker‐Warburg Syndrome: Prenatal ultrasound findings
    Prenatal diagnosis, 1993
    Co-Authors: Nidhi Vohra, Alessandro Ghidini, Manuel Alvarez, Charles J. Lockwood
    Abstract:

    The prenatal sonographic findings in a case of Walker-Warburg Syndrome are described. The patient was not at risk for this condition. Ultrasound examination at 34 weeks' gestation revealed hydrocephaly, Dandy-Walker anomaly, and striking ocular abnormalities. From a review of the literature it appears that while intracranial abnormalities can lead to the diagnosis in cases at risk for this Syndrome, ocular abnormalities are rather characteristic for this Syndrome and they should be searched for in every case of hydrocephaly or encephalocele.

Javad Towfighi - One of the best experts on this subject based on the ideXlab platform.

  • Cerebro-ocular dysplasia--muscular dystrophy (Walker Warburg) Syndrome. Findings in 20-week-old fetus.
    Acta neuropathologica, 1991
    Co-Authors: Geoffrey P. Miller, Roger L. Ladda, Javad Towfighi
    Abstract:

    A 20-week fetus affected with cerebro-ocular dysplasia and muscular dystrophy (Walker-Warburg Syndrome) is reported. The central nervous system (CNS) findings were typical of those previously described in this disorder, and were characterized by lissencephaly, hydrocephalus, and cerebral and cerebellar cortical dysplasia with glial and neuronal displacement into the leptomeninges. In addition, severe hypoplasia of pyramidal tracts were noted in the brain stem and spinal cord, as well as malformation of the inferior olivary and dentate nuclei. Skeletal muscle and eyes appeared normal on light microscopy. The genetic defect in this disorder is expressed in the CNS early during the first trimester and causes a marked disorder of cellular migration. Overt changes in muscle occur during a later period. The changes in the CNS are similar to, but more severe than, those found in Fukuyama congenital muscular dystrophy, and both may represent a failure of constraint of neuronal migration. Whether the Syndromes characterized by cerebro-ocular dysplasia and muscular dystrophy are genetically heterogeneous or allelic variations is unknown. Molecular genetic analysis should elucidate this question.

Nidhi Vohra - One of the best experts on this subject based on the ideXlab platform.

  • Walker Warburg Syndrome prenatal ultrasound findings
    Prenatal Diagnosis, 1993
    Co-Authors: Nidhi Vohra, Alessandro Ghidini, Manuel Alvarez, Charles J. Lockwood
    Abstract:

    The prenatal sonographic findings in a case of Walker-Warburg Syndrome are described. The patient was not at risk for this condition. Ultrasound examination at 34 weeks' gestation revealed hydrocephaly, Dandy-Walker anomaly, and striking ocular abnormalities. From a review of the literature it appears that while intracranial abnormalities can lead to the diagnosis in cases at risk for this Syndrome, ocular abnormalities are rather characteristic for this Syndrome and they should be searched for in every case of hydrocephaly or encephalocele.

  • Walker‐Warburg Syndrome: Prenatal ultrasound findings
    Prenatal diagnosis, 1993
    Co-Authors: Nidhi Vohra, Alessandro Ghidini, Manuel Alvarez, Charles J. Lockwood
    Abstract:

    The prenatal sonographic findings in a case of Walker-Warburg Syndrome are described. The patient was not at risk for this condition. Ultrasound examination at 34 weeks' gestation revealed hydrocephaly, Dandy-Walker anomaly, and striking ocular abnormalities. From a review of the literature it appears that while intracranial abnormalities can lead to the diagnosis in cases at risk for this Syndrome, ocular abnormalities are rather characteristic for this Syndrome and they should be searched for in every case of hydrocephaly or encephalocele.

Tatsushi Toda - One of the best experts on this subject based on the ideXlab platform.

  • Walker-Warburg Syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy.
    Journal of the neurological sciences, 2000
    Co-Authors: Yuko Chadani, Eri Kondo-iida, Osamu Kobayashi, Ikuya Nonaka, Tatsuro Kondoh, Naohisa Kamimura, Tadashi Matsumoto, Tetsuo Matsuzaka, Kazuhiro Kobayashi, Tatsushi Toda
    Abstract:

    A female patient who fulfilled the diagnostic criteria of Walker-Warburg Syndrome had muscle biopsy finding of muscular dystrophy. There was normal expression of merosin (laminin alpha2 chain) and dystrophin and only slightly reduced dystrophin-associated glycoprotein expression. On genetic analysis, she had no specific haplotype, the common mutation of 3kb insertion, or point mutations in the Fukuyama-type congenital muscular dystrophy gene, suggesting that the two diseases are not genetically identical.

  • A case of Walker-Warburg Syndrome.
    Brain & development, 2000
    Co-Authors: Yumi Asano, Kyoko Minagawa, Akemi Okuda, Tomoyoshi Matsui, Kumiko Ando, Eri Kondo-iida, Osamu Kobayashi, Tatsushi Toda, Ikuya Nonaka, Takakuni Tanizawa
    Abstract:

    Walker-Warburg Syndrome (WWS) is an autosomal recessive disorder characterized by type II lissencephaly, cerebellar and retinal anomalies, and congenital muscular dystrophy. We report a female diagnosed with WWS based on clinical criteria. This patient was found to have fetal hydrocephalus on ultrasonography at 29 weeks of gestation, and exhibited severe hypotonia, ocular malformations, and hydrocephalus at birth. MRI revealed type II lissencephaly, hydrocephalus, and other severe brain malformations. Genetic analysis was performed to distinguish WWS from severe Fukuyama-type congenital muscular dystrophy (FCMD), which has numerous findings in common. This revealed no expression of the founder haplotype or single-stranded conformation polymorphism (SSCP) abnormalities. Since the life expectancy of patients with FCMD is longer, differential diagnosis should be performed precisely.

  • Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg Syndrome
    Annals of neurology, 1995
    Co-Authors: Tatsushi Toda, Mieko Yoshioka, Yutaka Nakahori, Ichiro Kanazawa, Yusuke Nakamura, Yasuo Nakagome
    Abstract:

    Both Fukuyama-type congenital muscular dystrophy (FCMD) and Walker-Warburg Syndrome (WWS) are unusual genetic Syndromes consisting of congenital muscular dystrophy and complex malformations of the brain and eye. It has been intensively discussed whether FCMD and WWS belong to the same disease entity or not. We analyzed a family in which 3 siblings were affected with either FCMD or WWS by using polymorphic microsatellites flanking the FCMD locus on chromosome 9q31–33. The results suggested that both FCMD and WWS siblings shared the identical combination of mutations on either allele of the FCMD locus. FCMD and WWS could be “genetically” identical.

Manuel Alvarez - One of the best experts on this subject based on the ideXlab platform.

  • Walker Warburg Syndrome prenatal ultrasound findings
    Prenatal Diagnosis, 1993
    Co-Authors: Nidhi Vohra, Alessandro Ghidini, Manuel Alvarez, Charles J. Lockwood
    Abstract:

    The prenatal sonographic findings in a case of Walker-Warburg Syndrome are described. The patient was not at risk for this condition. Ultrasound examination at 34 weeks' gestation revealed hydrocephaly, Dandy-Walker anomaly, and striking ocular abnormalities. From a review of the literature it appears that while intracranial abnormalities can lead to the diagnosis in cases at risk for this Syndrome, ocular abnormalities are rather characteristic for this Syndrome and they should be searched for in every case of hydrocephaly or encephalocele.

  • Walker‐Warburg Syndrome: Prenatal ultrasound findings
    Prenatal diagnosis, 1993
    Co-Authors: Nidhi Vohra, Alessandro Ghidini, Manuel Alvarez, Charles J. Lockwood
    Abstract:

    The prenatal sonographic findings in a case of Walker-Warburg Syndrome are described. The patient was not at risk for this condition. Ultrasound examination at 34 weeks' gestation revealed hydrocephaly, Dandy-Walker anomaly, and striking ocular abnormalities. From a review of the literature it appears that while intracranial abnormalities can lead to the diagnosis in cases at risk for this Syndrome, ocular abnormalities are rather characteristic for this Syndrome and they should be searched for in every case of hydrocephaly or encephalocele.