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  OMIM 169100: Familial patent ductus arteriosus and unusual facies

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Author Topic:   OMIM 169100: Familial patent ductus arteriosus and unusual facies
FS Zollmann
posted 10-26-1999 08:30 AM     Click Here to See the Profile for FS Zollmann     Edit/Delete Message Reply w/Quote

I would like to know if there are researchers interested in getting DNA from a family here at the Department of Human Genetics, University of Bonn. The family contains a four person sibship (three sisters and one brother) all of the sisters presenting with a patent ductus arteriosus Botalli at birth. Surgical treatment of the patients has been performed around the age of five. The cardiac follow-up thereafter has been unremarkable. The son of the unaffected brother presented with a complex congenital heart defect
including ASD, VSD, TGV and a patent ductus artiosus. The father of the above mentioned four childreen has had a cardioangiography done 2 years ago which revealed normal results. The mother is free of cardiac symptoms, but detailed investigations for silent heart abnormalities have not been undertaken so far. Searching the literature I have found an article by Florence Char (Birth
Defects, 1978) where the familial occurence of a patent ductus arteriosus was associated with certain facial peculiarities. Since this report six more families have been published. The characteristical features of the face mainly comprised flattening of the nasal bridge, wide-set eyes, downturned palpebral fissures, flat profile and a high forehead.
In our family we observed similar facial features.

Kristin Bosse, MD


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