Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies

Research output: Contribution to journalArticle

Abstract

We report on a 2 9/12-year-old boy with disproportionate short stature, microcephaly, subtle craniofacial dysmorphisms, and generalized skeletal dysplasia, who developed a left hemiparesis. Brain neuroimaging disclosed a complex cerebral vascular anomaly (CVA) with stenosis of the right anterior cerebral artery and telangiectatic collateral vessels supplying the cerebral cortex, consistent with moyamoya disease. Based on clinical and skeletal features, a diagnosis of Majewski osteodysplastic primordial dwarfism type II (MOPD II) was established. Review of 16 published patients with CVA affected by either Seckel syndrome or MOPD II suggested that CVA is preferentially associated to the latter subtype affecting about 1/4 of the patients.

Original languageEnglish
Pages (from-to)212-215
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume139 A
Issue number3
DOIs
Publication statusPublished - Dec 15 2005

Fingerprint

Blood Vessels
Stroke
Moyamoya Disease
Anterior Cerebral Artery
Microcephaly
Paresis
Neuroimaging
Cerebral Cortex
Pathologic Constriction
Brain
Type II Microcephalic Osteodysplastic Primordial Dwarfism

Keywords

  • Cerebral
  • MOPD
  • MPD
  • Seckel
  • Stroke
  • Vascular

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

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AU - Castori, Marco

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AU - Dallapiccola, Bruno

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