title: Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.
abstract: 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 who came to our attention as a 22-year-old with subarachnoid bleeding due to a ruptured cranial aneurysm. Until then, the patient was thought and published to have Dubowitz syndrome; previously, he was treated with coronary bypass surgery for extensive coronary angiopathy. Consecutive genetic testing revealed MOPD II. After clinical stabilization, the patient was discharged to a specialized rehabilitation center where he died due to re-rupture of a cranial aneurysm.
  
  
  CONCLUSIONS
  In patients with short stature-especially when clinical features are accompanied by vascular complications-MOPD II should be considered as a differential diagnosis leading to consecutive genetic testing. After detection of mutations in the PCNT gene, a full vascular status including cerebral imaging and cardiac evaluation needs to be determined in order to analyze vascular abnormalities and initiate prophylactic treatment.
authors: Department of Pediatric Cardiology and Intensive Care Medicine, University Hospital, Georg-August University Göttingen, Robert-Koch Str. 40, 37075, Göttingen, Germany, jana.dieks@med.uni-goettingen.de.
authors: Jana-Katharina
authors: JK
authors: Dieks
authors: Alessandra
authors: A
authors: Baumer
authors: Ekkehard
authors: E
authors: Wilichowski
authors: Anita
authors: A
authors: Rauch
authors: Matthias
authors: M
authors: Sigler
mesh_terms: D000328:Adult; D000941:Antigens / Q000097:blood*; D015415:Biomarkers / Q000097:blood; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D004392:Dwarfism / Q000175:diagnosis* / Q000235:genetics*; D004485:Eczema / Q000175:diagnosis; D019066:Facies; D017809:Fatal Outcome; D005317:Fetal Growth Retardation / Q000175:diagnosis* / Q000235:genetics*; D006130:Growth Disorders / Q000175:diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D002532:Intracranial Aneurysm / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D008297:Male; D008831:Microcephaly / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics*; D010360:Patient Transfer; D012008:Recurrence
chemical_list: D000941:Antigens; D015415:Biomarkers; C086178:pericentrin