Publication: Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome
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Dieks, J.-K., Baumer, A., Wilichowski, E., Rauch, A., & Sigler, M. (2014). Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. European Journal of Pediatrics, 173(9), 1253–1256. https://doi.org/10.1007/s00431-014-2368-5
Abstract
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To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome. In microcephalic osteodysplastic primordial dwarfism type II (MOPD II; disproportionate short statue, microcephaly, facial abnormalities), however, cerebral aneurysms and other vascular abnormalities are frequent complications. MOPD II is a genetic disorder caused by mutations in the pericentrin (PCNT) gene (21q22). We report on a patient wh
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Creators (Authors)
- Dieks, Jana-Katharina
- Baumer, Alessandra
- Wilichowski, Ekkehard
- Rauch, Anita
- Sigler, Matthias
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Dieks, J.-K., Baumer, A., Wilichowski, E., Rauch, A., & Sigler, M. (2014). Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. European Journal of Pediatrics, 173(9), 1253–1256. https://doi.org/10.1007/s00431-014-2368-5
