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Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II.
Pediatr Neurol. 2008 Jun; 38(6):435-8.PN

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

    Galasso C
    Pediatric Neurology Unit, Department of Neuroscience, Tor Vergata University of Rome, Rome, Italy. cinzia.galasso@uniroma2.it
    Lo-Castro A
    No affiliation info available
    Lalli C
    No affiliation info available
    Cerminara C
    No affiliation info available
    Curatolo P
    No affiliation info available

    MeSH

    Activities of Daily LivingAdolescentBrainDwarfism, PituitaryElectroencephalographyHumansMagnetic Resonance ImagingMaleMicrocephalyNervous SystemNeuropsychological TestsSocialization

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    18486828

    Citation

    Galasso, Cinzia, et al. "Neurologic Aspects of Microcephalic Osteodysplastic Primordial Dwarfism Type II." Pediatric Neurology, vol. 38, no. 6, 2008, pp. 435-8.
    Galasso C, Lo-Castro A, Lalli C, et al. Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II. Pediatr Neurol. 2008;38(6):435-8.
    Galasso, C., Lo-Castro, A., Lalli, C., Cerminara, C., & Curatolo, P. (2008). Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II. Pediatric Neurology, 38(6), 435-8. https://doi.org/10.1016/j.pediatrneurol.2008.02.011
    Galasso C, et al. Neurologic Aspects of Microcephalic Osteodysplastic Primordial Dwarfism Type II. Pediatr Neurol. 2008;38(6):435-8. PubMed PMID: 18486828.
    * 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 -