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

Document Type



Paediatrics and Child Health


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.


This work was published before the author joined Aga Khan University.

Publication (Name of Journal)

Journal of American Association for Pediatric Ophthalmology and Strabismus