Abstract
This article discusses two non-related children, who presented at an age of 20 and 1.5 months respectively with a persistent or large anterior fontanel associated with hypermobility of the shoulders. In both cases cleidocranial dysplasia was diagnosed, an autosomal dominantly inherited skeletal dysplasia. Clinical and genetic aspects of this relatively rare disease are presented.
| Translated title of the contribution | Persistent or large anterior fontanel associated with hypermobility of the shoulders - Cleidocranial dysplasia? |
|---|---|
| Original language | Dutch |
| Pages (from-to) | 187-191 |
| Number of pages | 5 |
| Journal | Tijdschrift voor Kindergeneeskunde |
| Volume | 73 |
| Issue number | 5 |
| Publication status | Published - 1 Oct 2005 |