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https://hdl.handle.net/2440/91461
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Type: | Journal article |
Title: | Muencke syndrome With cleft lip and palate |
Author: | Anderson, P.J. Snell, B. Moore, M.H. |
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 |
Published version: | http://dx.doi.org/10.1097/scs.0b013e31829035c3 |
Appears in Collections: | Aurora harvest 7 Paediatrics publications |
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