Familial primary hypertrophic osteoarthropathy in association with congenital cardiac disease.
It is rare to find congenital cardiac disease in association with familial primary hypertrophic osteoarthropathy. We have now encountered three siblings, two of whom had digital clubbing, patent arterial ducts and delayed closure of the cranial fontanels. The third infant was unusual in that there was no clubbing, or cranial abnormality, despite a small ventricular septal defect. To the best of our knowledge, this association has not previously been observed.
D002648:Child; D002675:Child, Preschool; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010004:Osteoarthropathy, Primary Hypertrophic / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography