"Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II.J AAPOS. 2013 Feb; 17(1):100-2.JA
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
MeSH
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), 100-2. https://doi.org/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/"Ocular_moyamoya"_syndrome_in_a_patient_with_features_of_microcephalic_osteodysplastic_primordial_dwarfism_type_II_
L2 - https://linkinghub.elsevier.com/retrieve/pii/S1091-8531(12)00381-3
DB - PRIME
DP - Unbound Medicine
ER -