© 2002 Journal of Medical Genetics
LETTER TO JMG
Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis
1 Department of Paediatric Ophthalmology, Strabismology, and Ophthalmogenetics, Klinikum, University of Regensburg, 93042 Regensburg, Germany
2 Department of Neurosurgery, Klinikum, University of Regensburg, 93042 Regensburg, Germany
3 Department of Oral, Maxillofacial, and Plastic Surgery, Klinikum, University of Regensburg, 93042 Regensburg, Germany
Correspondence to:
Correspondence to:
Dr M Preising, Department of Paediatric Ophthalmology, Strabismology, and Ophthalmogenetics, Klinikum, University of Regensburg, 93042 Regensburg, Germany;
markus.preising@klinik.uni-regensburg.de
Keywords: craniosynostosis; fibroblast growth factor type 3; FGFR3 P250L mutation
| The first 150 words of the full text of this article appear below. |
Craniosynostoses are caused by premature fusion of one or more sutures of the infant’s skull with an incidence between 1:1000 and 1:10 000.1 Isolated and syndromic forms can be differentiated and are involved in over 150 genetic disorders.2 Syndromic forms tend to be inherited and include variable other malformations of the extremities, the backbone, and the face. Isolated forms of craniosynostoses are often non-hereditary with closure of a single cranial suture. In most cases of syndromic craniosynostoses, multiple sutures are closed and often hydrocephalus and intracranial hypertension occurs. Mutations in the genes for fibroblast growth factor receptors (FGFR) 1, 2 , and 3 have been associated with syndromic craniosynostoses in a variety of clinical phenotypes (table 1
).
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View this table: [in a new window] Table 1 Genetic involvement in craniosynostoses |
Muenke syndrome has been reported as syndromic craniosynostosis with unilateral or bilateral coronal synostosis, and minimal non-facial features.3 Muenke syndrome has been diagnosed in patients ascribed
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