Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/91461
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Type: Journal article
Title: Muencke syndrome With cleft lip and palate
Author: Anderson, P.
Snell, B.
Moore, M.
Citation: Journal of Craniofacial Surgery, 2013; 24(4):1484-1485
Publisher: Lippincott, Williams & Wilkins
Issue Date: 2013
ISSN: 1536-3732
1536-3732
Statement of
Responsibility: 
Peter J. Anderson, Broughton Snell
Abstract: Muencke syndrome results from mutations in the FGFR3 gene, and although it is well recognized that the clinical presentation is variable, the important key finding includes coronal synostosis. We present a family where a mother with proven FGFR3 Pro250Arg mutation gave birth to identical twins both of whom had craniosynostosis but had coexisting bilateral cleft lip and palate. We believe that this is the first description of clefting occurring in conjunction with Muencke syndrome and so further extends the range of phenotypic variation that can occur in this syndrome.
Keywords: Humans
Craniosynostoses
Cleft Palate
Cleft Lip
Syndrome
Diseases in Twins
Ultrasonography, Prenatal
DNA Mutational Analysis
Twins, Monozygotic
Adult
Infant
Infant, Newborn
Female
Male
Receptor, Fibroblast Growth Factor, Type 3
Rights: © 2013 Mutaz B. Habal, MD
DOI: 10.1097/SCS.0b013e31829035c3
Appears in Collections:Aurora harvest 7
Paediatrics publications

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