I describe a boy with lambdoid craniosynostosis, severe global developmental delay, epilepsy, oculomotor dyspraxia, very thin corpus callosum, and minor anomalies. The phenotype is in keeping with a diagnosis of craniofacial dyssynostosis. This autosomal recessive condition was first described in 19
Craniofacial dyssynostosis: Case report and review
β Scribed by Grosso, Salvatore ;Vivarelli, Rossella ;Muraca, Maria Carmela ;Berardi, Rosario ;Marconcini, Silvia ;Morgese, Guido ;Balestri, Paolo
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 120 KB
- Volume
- 129A
- Category
- Article
- ISSN
- 0148-7299
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We have read with great interest the Clinical Report by Grosso et al. [2004], on a patient with craniofacial dyssynostosis (CFD), emphasizing two new findings previously unreported (hydronephrosis and partial empty sella turcica) and discussing central nervous system involvement in CFD. We have rece
We describe an Arab boy with craniofacial dyssynostosis. He presented with facial anomalies, mental retardation, epilepsy, hypotonia, and agenesis of the corpus callosum. This report reemphasises the previously reported traits of craniofacial dysost o s i s s y n d r o m e a n d s u g g e s t s t h