Abstract
A 4-year-old boy was referred because of pan-digital clubbing and watch-glass nails. Other remarkable findings were: surgical closure of a patent arterial duct, decreased knee-mobility and consanguineous parents. This combination is suggestive for primary hypertrophic osteoarthropathy (PHO; #OMIM 259100). PHO was proven by his homozygous mutation of the 15-hydroxyprostaglandine dehydroxygenase-gene.
| Translated title of the contribution | A boy with digital clubbing |
|---|---|
| Original language | Dutch |
| Article number | D1807 |
| Journal | Nederlands Tijdschrift voor Geneeskunde |
| Volume | 161 |
| Publication status | Published - 1 Jan 2017 |
Keywords
- Child, Preschool
- Consanguinity
- Fingers/pathology
- Humans
- Hydroxyprostaglandin Dehydrogenases/genetics
- Male
- Mutation
- Osteoarthropathy, Primary Hypertrophic/genetics pathology
- Toes/pathology
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