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

Genie M. Bang; Salman Kirmani; Alice Patton; Jose S. Pulido; Michael C. Brodsky

doi:10.1016/j.jaapos.2012.09.007

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

Genie M. Bang, Salman Kirmani, Alice Patton, Jose S. Pulido, Michael C. Brodsky

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

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.

Original language	English
Pages (from-to)	100-102
Number of pages	3
Journal	Journal of AAPOS
Volume	17
Issue number	1
DOIs	https://doi.org/10.1016/j.jaapos.2012.09.007
Publication status	Published - Feb 2013
Externally published	Yes

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10.1016/j.jaapos.2012.09.007

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title = "{"}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.",

author = "Bang, {Genie M.} and Salman Kirmani and Alice Patton and Pulido, {Jose S.} and Brodsky, {Michael C.}",

note = "Funding Information: Supported in part by an unrestricted grant to the Department of Ophthalmology from Research to Prevent Blindness , New York, and Mayo Foundation , Rochester, Minnesota. ",

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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.

N1 - Funding Information: Supported in part by an unrestricted grant to the Department of Ophthalmology from Research to Prevent Blindness , New York, and Mayo Foundation , Rochester, Minnesota.

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Y1 - 2013/2

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.

AB - 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.

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

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