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The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature.

Abstract

Taybi-Linder syndrome, also known as microcephalic osteodysplastic primordial dwarfism types I and III, is a rare disorder with presumed autosomal recessive inheritance. It is characterized by intrauterine growth retardation, distinctive bone dysplasia, and central nervous system malformations. We present two siblings with Taybi-Linder syndrome, with an emphasis on the neurological profile in this disease, which includes brain malformations, intractable epilepsy, sensory deficits, profound cognitive deficits, and neuroendocrine dysfunction. We also present distinctive correlative neuroimaging (MRI) and electroencephalographic (EEG) findings. Increased knowledge of the neurological profile of Taybi-Linder syndrome may be helpful for clinicians and genetic counselors managing these patients.

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  • Authors+Show Affiliations

    ,

    Department of Pediatrics, University of California San Francisco, Fresno, California, USA. melinda.ross@gmail.com

    Source

    MeSH

    Dwarfism
    Female
    Fetal Growth Retardation
    Humans
    Infant, Newborn
    Magnetic Resonance Imaging
    Male
    Microcephaly
    Osteochondrodysplasias
    Siblings

    Pub Type(s)

    Case Reports
    Journal Article
    Review

    Language

    eng

    PubMed ID

    22302400

    Citation

    Pierce, Melinda J., and Richard P. Morse. "The Neurologic Findings in Taybi-Linder Syndrome (MOPD I/III): Case Report and Review of the Literature." American Journal of Medical Genetics. Part A, vol. 158A, no. 3, 2012, pp. 606-10.
    Pierce MJ, Morse RP. The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature. Am J Med Genet A. 2012;158A(3):606-10.
    Pierce, M. J., & Morse, R. P. (2012). The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature. American Journal of Medical Genetics. Part A, 158A(3), pp. 606-10. doi:10.1002/ajmg.a.33958.
    Pierce MJ, Morse RP. The Neurologic Findings in Taybi-Linder Syndrome (MOPD I/III): Case Report and Review of the Literature. Am J Med Genet A. 2012;158A(3):606-10. PubMed PMID: 22302400.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature. AU - Pierce,Melinda J, AU - Morse,Richard P, Y1 - 2012/02/02/ PY - 2010/06/17/received PY - 2011/01/22/accepted PY - 2012/2/4/entrez PY - 2012/2/4/pubmed PY - 2012/6/5/medline SP - 606 EP - 10 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 158A IS - 3 N2 - Taybi-Linder syndrome, also known as microcephalic osteodysplastic primordial dwarfism types I and III, is a rare disorder with presumed autosomal recessive inheritance. It is characterized by intrauterine growth retardation, distinctive bone dysplasia, and central nervous system malformations. We present two siblings with Taybi-Linder syndrome, with an emphasis on the neurological profile in this disease, which includes brain malformations, intractable epilepsy, sensory deficits, profound cognitive deficits, and neuroendocrine dysfunction. We also present distinctive correlative neuroimaging (MRI) and electroencephalographic (EEG) findings. Increased knowledge of the neurological profile of Taybi-Linder syndrome may be helpful for clinicians and genetic counselors managing these patients. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/22302400/The_neurologic_findings_in_Taybi_Linder_syndrome__MOPD_I/III_:_case_report_and_review_of_the_literature_ L2 - https://doi.org/10.1002/ajmg.a.33958 DB - PRIME DP - Unbound Medicine ER -