Tags

Type your tag names separated by a space and hit enter

"Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II.

Abstract

Primordial dwarfism refers to severely impaired growth beginning early in fetal life. There are many genetic causes of primordial dwarfism, including disorders classified as microcephalic osteodysplastic primordial dwarfism. Microcephalic osteodysplastic primordial dwarfism type II is an autosomal-recessive disease characterized by small stature, bone and dental anomalies, and characteristic facies. Affected patients have a high risk of stroke secondary to progressive cerebral vascular anomalies, which often are classified as moyamoya disease. We present the case of a boy with features suggestive of MOPD II with unilateral moyamoya cerebrovascular changes and correlative moyamoya collaterals involving the iris of the ipsilateral eye.

Links

  • Publisher Full Text
  • Authors+Show Affiliations

    ,

    Department of Ophthalmology, Mayo Clinic, Rochester, MN 55905, USA.

    , , ,

    Source

    MeSH

    Child, Preschool
    Dwarfism
    Fetal Growth Retardation
    Fluorescein Angiography
    Humans
    Imaging, Three-Dimensional
    Iris Diseases
    Magnetic Resonance Angiography
    Male
    Microcephaly
    Moyamoya Disease
    Osteochondrodysplasias
    Visual Acuity

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    23337351

    Citation

    Bang, Genie M., et al. ""Ocular Moyamoya" Syndrome in a Patient With Features of Microcephalic Osteodysplastic Primordial Dwarfism Type II." Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, vol. 17, no. 1, 2013, pp. 100-2.
    Bang GM, Kirmani S, Patton A, et al. "Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II. J AAPOS. 2013;17(1):100-2.
    Bang, G. M., Kirmani, S., Patton, A., Pulido, J. S., & Brodsky, M. C. (2013). "Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II. Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 17(1), pp. 100-2. doi:10.1016/j.jaapos.2012.09.007.
    Bang GM, et al. "Ocular Moyamoya" Syndrome in a Patient With Features of Microcephalic Osteodysplastic Primordial Dwarfism Type II. J AAPOS. 2013;17(1):100-2. PubMed PMID: 23337351.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - "Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II. AU - Bang,Genie M, AU - Kirmani,Salman, AU - Patton,Alice, AU - Pulido,Jose S, AU - Brodsky,Michael C, Y1 - 2013/01/18/ PY - 2012/08/16/received PY - 2012/09/19/revised PY - 2012/09/22/accepted PY - 2013/1/23/entrez PY - 2013/1/23/pubmed PY - 2013/6/15/medline SP - 100 EP - 2 JF - Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus JO - J AAPOS VL - 17 IS - 1 N2 - Primordial dwarfism refers to severely impaired growth beginning early in fetal life. There are many genetic causes of primordial dwarfism, including disorders classified as microcephalic osteodysplastic primordial dwarfism. Microcephalic osteodysplastic primordial dwarfism type II is an autosomal-recessive disease characterized by small stature, bone and dental anomalies, and characteristic facies. Affected patients have a high risk of stroke secondary to progressive cerebral vascular anomalies, which often are classified as moyamoya disease. We present the case of a boy with features suggestive of MOPD II with unilateral moyamoya cerebrovascular changes and correlative moyamoya collaterals involving the iris of the ipsilateral eye. SN - 1528-3933 UR - https://www.unboundmedicine.com/medline/citation/23337351/ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1091-8531(12)00381-3 DB - PRIME DP - Unbound Medicine ER -