Persisterende of grote voorste fontanel in combinatie met hypermobiliteit van de schouders - Cleidocraniale dysplasie?
Publication date
2005-10-01
Authors
Cohen, J.
De Waal, W. J.
Giltay, Jacques C.
Hagendoorn, Jeroen
Terhal, Paulien A.
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Document Type
Article
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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.
Keywords
Pediatrics, Perinatology, and Child Health
Citation
Cohen, J, De Waal, W J, Giltay, J, Hagendoorn, J & Terhal, P A 2005, 'Persisterende of grote voorste fontanel in combinatie met hypermobiliteit van de schouders - Cleidocraniale dysplasie?', Tijdschrift voor Kindergeneeskunde, vol. 73, no. 5, pp. 187-191.