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

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

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

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 languageEnglish (US)
Pages (from-to)100-102
Number of pages3
JournalJournal of AAPOS
Volume17
Issue number1
DOIs
StatePublished - Feb 1 2013

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology

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