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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

REFERENCES

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  • Cohen MM. Pfeiffer syndrome update, clinical subtypes and guidelines for differential diagnosis. American Journal of Medical Genetics, 1993;45:300–307.
  • Shotelersuk V, Ittiwut C, Srivuthana S, et al. Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C Mutation in FGFR2. American Journal of Medical Genetics, 2002;113:4–8.
  • Van Dyke D, Zackai EH, Diamond GR. Clinical observation: ocular abnormalities in a patient with Pfeiffer syndrome (acrocephalosyndactyly. Type v) Journal of Clinical Dysmorphology, 1983;1:2–5.
  • Jones MR, de Sa LCF. Good WV. Atypical iris colobomata and Pfeiffer syndrome. Journal of Pediatric Ophthalmology Strabismus, 1993;30:266–267.
  • Okajima K, Robinson LK, Hart MA et al. Ocular anterior chamger dysgenesis in craniosynostosis syndromes with a fibroblast growth factor recptor 2 mutation. American Journal of Medical Genetics, 1999;85:160–170.
  • Wilkie AOM. Craniosynostosis: genes and mechanisms. Human Molecular Genetics, 1997;6:1647–1656.
  • Moore MH, Cantrell SB, Trott JA et al. Pfeiffer syndrome: a clinical review. Cleft Palate Craniofacial Journal, 1995;32:62–70.
  • Lyons CJ. Craniofacial Abnormalities. In: Taylor, and Hoyt, editors. Pediatric Ophthalmolgy and Strabismus. London: Elsevier Saunders, 2005;354–367.
  • Schaefer F. Anderson C, Can B et al. Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case. American Journal of Medical Genetics, 1998;75:252–255.
  • Gripp KW, Stolle CA, McDonald-McGinn DM et al. Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. American Journal of Medical Genetics, 1998;78:356–360.

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