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Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II.

Abstract

Microcephalic osteodysplastic primordial dwarfism type II is a specific disorder characterized by severe intrauterine and postnatal growth retardation, acquired microcephaly, cerebrovascular abnormalities, progressive bone dysplasia, and a characteristic face. Whereas the diagnostic features of this syndrome are well-recognized, the neurologic aspects have not been clearly defined. We report on a detailed neurodevelopmental follow-up study of a new case of microcephalic osteodysplastic primordial dwarfism type II, followed from the first years of life to adolescence, and we discuss the neurocognitive features of our patient. We also review the neurologic aspects of this disorder compared with syndromes with overlapping phenotypes, such as microcephalic osteodysplastic primordial dwarfism types I and III and Seckel syndrome.

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  • Authors+Show Affiliations

    ,

    Pediatric Neurology Unit, Department of Neuroscience, Tor Vergata University of Rome, Rome, Italy. cinzia.galasso@uniroma2.it

    , , ,

    Source

    Pediatric neurology 38:6 2008 Jun pg 435-8

    MeSH

    Activities of Daily Living
    Adolescent
    Brain
    Dwarfism, Pituitary
    Electroencephalography
    Humans
    Magnetic Resonance Imaging
    Male
    Microcephaly
    Nervous System
    Neuropsychological Tests
    Socialization

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    18486828

    Citation

    * When formatting your citation, note that all book, journal, and database titles should be italicized* Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II. AU - Galasso,Cinzia, AU - Lo-Castro,Adriana, AU - Lalli,Cristina, AU - Cerminara,Caterina, AU - Curatolo,Paolo, PY - 2007/09/17/received PY - 2008/01/03/revised PY - 2008/02/18/accepted PY - 2008/5/20/pubmed PY - 2008/7/19/medline PY - 2008/5/20/entrez SP - 435 EP - 8 JF - Pediatric neurology JO - Pediatr. Neurol. VL - 38 IS - 6 N2 - Microcephalic osteodysplastic primordial dwarfism type II is a specific disorder characterized by severe intrauterine and postnatal growth retardation, acquired microcephaly, cerebrovascular abnormalities, progressive bone dysplasia, and a characteristic face. Whereas the diagnostic features of this syndrome are well-recognized, the neurologic aspects have not been clearly defined. We report on a detailed neurodevelopmental follow-up study of a new case of microcephalic osteodysplastic primordial dwarfism type II, followed from the first years of life to adolescence, and we discuss the neurocognitive features of our patient. We also review the neurologic aspects of this disorder compared with syndromes with overlapping phenotypes, such as microcephalic osteodysplastic primordial dwarfism types I and III and Seckel syndrome. SN - 0887-8994 UR - https://www.unboundmedicine.com/medline/citation/18486828/Neurologic_aspects_of_microcephalic_osteodysplastic_primordial_dwarfism_type_II_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0887-8994(08)00118-5 DB - PRIME DP - Unbound Medicine ER -