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Ophthalmic Genetics Volume 31, 2010 - Issue 4
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Original Article

A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings

Gerard P. BarryDepartment of Ophthalmology, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
,
Betina Mucha-Le NyDepartment of Genetics, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
,
Elaine H. ZackaiDepartment of Genetics, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
,
Lili GrunwaldDepartment of Ophthalmology, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
&
Brian J. ForbesDepartment of Ophthalmology, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USACorrespondence[email protected]
Pages 193-195 | Received 04 May 2010, Accepted 23 Jun 2010, Published online: 01 Sep 2010

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Natalia Anisimova, Lisa Arbisser, Argyrios Tzamalis, Beáta Éva Petrovski, Natalya Shilova, Goran Petrovski, Sergey Anisimov & Boris Malyugin. (2022) Corectopia grading: A novel classification system. Seminars in Ophthalmology 37:1, pages 105-110.
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Articles from other publishers (13)

Joseph Salem, Wendy Blumenow, Anne Markey, Emma S. Hogg, Emma McCann, Emily Yassaie, Anusha Hennedige, Sujata De & Sunil D. Sharma. (2023) The Role of Airway Management on Feeding Difficulties in Children With Pfeiffer Syndrome. Journal of Craniofacial Surgery.
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Abdelrahman M. Elhusseiny & Linda R. Dagi. 2022. Endoscopic Craniosynostosis Surgery. Endoscopic Craniosynostosis Surgery 71 84 .
Zhi‐yang Hu, Sheng‐mou Lin, Meng‐jie Zhu, Cindy Ka‐Yee Cheung, Tao Liu & Jin Zhu. (2021) Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency. Clinical Case Reports 9:10.
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Cassio Eduardo Raposo-Amaral, Yuri Moresco Oliveira, Rafael Denadai, Cesar Augusto Raposo-Amaral & Enrico Ghizoni. (2021) Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant. Child's Nervous System 37:7, pages 2391-2397.
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Sarah Kilcoyne, Katherine Ruth Potter, Zoe Gordon, Sarah Overton, Sally Brockbank, Jayaratnam Jayamohan, Shailendra Magdum, Martin Smith, David Johnson, Steven Wall & Andrew O.M. Wilkie. (2021) Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated Pfeiffer Syndrome. Journal of Craniofacial Surgery 32:1, pages 134-140.
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Kelly P. Schultz, Claire J. Wiggins, Haley Streff, Veeral S. Shah & Edward P. Buchanan. (2018) Syndromic Multisuture Craniosynostosis With Associated Anterior Segment Dysgenesis, Optic Nerve Hypoplasia, and Congenital Glaucoma. The Cleft Palate-Craniofacial Journal 56:6, pages 823-826.
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Karen E. Revere, Brian J. Forbes, William R. Katowitz & James A. Katowitz. 2018. Pediatric Oculoplastic Surgery. Pediatric Oculoplastic Surgery 801 830 .
Renato A. Machado, Shirlene B. Ferreira, Luciane Martins, Mariana M. Ribeiro, Daniella R. B. Martelli, Ricardo D. Coletta, Marcos J. B. Aguiar & Hercílio Martelli‐Júnior. (2017) A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome . American Journal of Medical Genetics Part A 173:10, pages 2838-2843.
Crossref
Jeremy D. Clark, Christopher J. Compton, Youssef Tahiri, William R. Nunery & Hui Bae Harold Lee. (2016) Ophthalmic considerations in patients with Pfeiffer syndrome. American Journal of Ophthalmology Case Reports 2, pages 1-3.
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. 2016. Diagnostic Imaging: Obstetrics. Diagnostic Imaging: Obstetrics 982 985 .
Adela Wu & Megan E. Collins. (2015) Newer Understanding of Eye Issues in Craniofacial Malformations. Current Ophthalmology Reports 3:4, pages 225-231.
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Janice A. Vranka, Mary J. Kelley, Ted S. Acott & Kate E. Keller. (2015) Extracellular matrix in the trabecular meshwork: Intraocular pressure regulation and dysregulation in glaucoma. Experimental Eye Research 133, pages 112-125.
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Linda M. Reis & Elena V. Semina. (2011) Genetics of anterior segment dysgenesis disorders. Current Opinion in Ophthalmology 22:5, pages 314-324.
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