NDLI: Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype.

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Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Bober, Michael B. Khan, Nadia Kaplan, Jennifer Lewis, Kristi Feinstein, Jeffrey A. Scott, Charles I. Steinberg, Gary K.
Description	Country affiliation: United States Author Affiliation: Bober MB ( Division of Genetics, Department of Pediatrics, AI DuPont Hospital for Children, Wilmington, Delaware 19803, USA. mbober@nemours.org)
Abstract	Majewski Osteodysplastic Primordial Dwarfism, Type II (MOPD II) is a rare, autosomal recessive disorder. Features include severe intrauterine growth retardation (IUGR), poor postnatal growth (adult stature approximately 100 cm), severe microcephaly, skeletal dysplasia, characteristic facial features, and normal or near normal intelligence. An Institutional Review Board (IRB) approved registry was created and currently follows 25 patients with a diagnosis of MOPD II. Based on previous studies, a neurovascular screening program was implemented and 13 (52%) of these patients have been found to have cerebral neurovascular abnormalities including moyamoya angiopathy and/or intracranial aneurysms. The typical moyamoya pathogenesis begins with vessel narrowing in the supraclinoid internal carotid artery, anterior cerebral (A1) or middle cerebral (M1) artery segments. The narrowing may predominate initially on one side, progresses to bilateral stenosis, with subsequent occlusion of the vessels and collateral formation. We present four patients who, on neurovascular screening, were found to have cerebrovascular changes. Two were asymptomatic, one presented with a severe headache and projectile vomiting related to a ruptured aneurysm, and one presented after an apparent decline in cognitive functioning. Analysis of the registry suggests screening for moyamoya disease be performed at the time of MOPD II diagnosis and at least every 12-18 months using MRA or computerized tomographic angiography (CTA). We believe this is imperative. If diagnosed early enough, re-vascularization and aneurysm treatment in skilled hands can be performed safely and prevent or minimize long-term sequelae in this population. Emergent evaluation is also needed when other neurologic or cardiac symptoms are present.
File Format	HTM / HTML
ISSN	15524825
Issue Number	4
Volume Number	152A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-04-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Dwarfism Complications Short Rib-polydactyly Syndrome Vascular Diseases Pathology Adolescent Child Child, Preschool Constriction, Pathologic Coronary Angiography Humans Infant Magnetic Resonance Angiography Male Phenotype Case Reports Journal Article
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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