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Otology & Neurotology, ISSN 1531-7129, 08/2019, Volume 40, Issue 7, pp. e755 - e757
Journal Article
Journal of Craniofacial Surgery, ISSN 1049-2275, 09/2013, Volume 24, Issue 5, pp. 1829 - 1832
Journal Article
Child's Nervous System, ISSN 0256-7040, 2019
Pfeiffer syndrome is a rare autosomal dominant inherited disorder associated with craniosynostosis, midfacial hypoplasia, and broad thumbs and toes. The... 
Pfeiffer syndrome | Acrocephalosyndactyly | Fibroblast growth factor receptor (FGFR) | Craniosynostosis | Cloverleaf skull
Journal Article
DMM Disease Models and Mechanisms, ISSN 1754-8403, 2019, Volume 12, Issue 5, p. dmm038513
One diagnostic feature of craniosynostosis syndromes is mandibular dysgenesis. Using three mouse models of Apert, Crouzon and Pfeiffer craniosynostosis... 
Pfeiffer syndrome | Cartilage | Apert syndrome | Transcriptome | Osteoclast | FGFR2 | Crouzon syndrome
Journal Article
Plastic and reconstructive surgery, ISSN 0032-1052, 06/2018, Volume 141, Issue 6, pp. 1508 - 1516
Occurring once in every 2000 live births, craniosynostosis is one of the most frequent congenital anomalies encountered by the craniofacial surgeon. Syndromic... 
SURGERY | AUTISM | DE-NOVO MUTATIONS | AUTOSOMAL-DOMINANT CRANIOSYNOSTOSIS | CONGENITAL HEART-DISEASE | GROWTH-FACTOR RECEPTOR-2 | PFEIFFER-SYNDROME | CORONAL CRANIOSYNOSTOSIS | CROUZON-SYNDROME | SPECTRUM | SAGITTAL CRANIOSYNOSTOSIS
Journal Article
Fetal and Pediatric Pathology, ISSN 1551-3815, 09/2019, Volume 38, Issue 5, pp. 412 - 417
Background: Pfeiffer syndrome (PS) is an autosomal dominant entity characterized by craniosynostosis, broad thumbs, and preaxially deviated great toes. It is... 
Pfeiffer syndrome | Prune belly anomaly | Omphalocele | Ascites | FGFR2 | Parvovirus B19 | PEDIATRICS | MUTATIONS | PATHOLOGY
Journal Article
Journal of Korean Neurosurgical Society, ISSN 2005-3711, 2016, Volume 59, Issue 3, pp. 187 - 191
Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to... 
Pfeiffer syndrome | Antley-Bixler syndrome | Saethre-Chotzen syndrome | Apert syndrome | Craniosynostosis | Crouzon syndrome | Pediatric Issue
Journal Article
Genetics in Medicine, ISSN 1098-3600, 02/2019, Volume 21, Issue 2, pp. 471 - 476
Purpose: Among children with FGFR2-associated Pfeiffer syndrome, those with the W290C pathogenic variant (PV) are reported to have the worst clinical outcomes.... 
Pfeiffer syndrome | Neurodevelopment | Intracranial pressure | Cephalocranial disproportion | Craniosynostosis | DIAGNOSIS | GENE | TRP290CYS MUTATION | MONOBLOC DISTRACTION | GENETICS & HEREDITY | SLEEVE | TRACHEAL ANOMALIES
Journal Article
Cytokine and Growth Factor Reviews, ISSN 1359-6101, 2005, Volume 16, Issue 2, pp. 205 - 213
Journal Article
Plastic and Reconstructive Surgery, ISSN 0032-1052, 03/2017, Volume 139, Issue 3, pp. 701 - 709
BACKGROUND:Le Fort III osteotomy represents the foundation of surgical correction for midface hypoplasia. One serious complication of Le Fort III osteotomy is... 
CRANIOFACIAL DYSOSTOSIS | LEFORT-III | SURGERY | MANAGEMENT | I OSTEOTOMY | DISTRACTION | ADVANCEMENT | DEFORMITIES | COMPLICATIONS | CROUZONS | PFEIFFER SYNDROME | Humans | Middle Aged | Aged, 80 and over | Female | Male | Aged | Maxilla - surgery | Maxilla - anatomy & histology | Cadaver | Osteotomy, Le Fort - methods
Journal Article
CNS Neuroscience & Therapeutics, ISSN 1755-5930, 10/2018, Volume 24, Issue 10, pp. 978 - 980
Journal Article
Developmental Dynamics, ISSN 1058-8388, 03/2013, Volume 242, Issue 3, pp. C1 - C1
COVER PHOTOGRAPH: Multimodal imaging and segmentation used to visualize skull (yellow), brain (pink), inner ear (green), nasopharynx (green) and globe of the... 
Pfeiffer syndrome | eye | craniosynostosis | skull | brain | nasopharynx | inner ear | FGFR2 | Crouzon syndrome
Journal Article
Journal Article
Child's Nervous System, ISSN 0256-7040, 9/2019, Volume 35, Issue 9, pp. 1451 - 1455
Journal Article
by Suh, YJ and Bae, HS and Choi, JY and Lee, JH and Kim, MJ and Kim, S and Ryoo, HM and Baek, SH
JOURNAL OF CELLULAR BIOCHEMISTRY, ISSN 0730-2312, 01/2014, Volume 115, Issue 1, pp. 102 - 110
The purposes of this study were to find a novel mutation of FGFR2 in Korean Crouzon syndrome patients and to identify the functional consequences of this... 
DIAGNOSIS | JACKSON-WEISS-SYNDROME | TYROSINE KINASE DOMAIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | CROUZON SYNDROME | PFEIFFER-SYNDROME | CRANIOSYNOSTOSIS SYNDROME | FAMILY | CELL BIOLOGY | GENE | NOVEL FGFR2 MUTATION | GROWTH | L617F
Journal Article
Journal Article