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Crouzon Syndrome: Neonatal Case Report

Year 2004, Volume: 5 Issue: 2, 27 - 29, 01.08.2004

Abstract

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References

  • 1. H a s l a m R H A . N e u r o l o g i c E v a l u a t i o n , Craniosynostosis: In: Nelson Textbook of Pediatrics 17 ed. Philadelphia: WB Saunders, 2004: 1992-93.
  • 2. Smith DW. Recognizable Patterns of Human Malformation Genetic, Embryologic and Clinical Aspects 3rd ed. Philadelphia: WB Saunders, 1982: 310-11
  • 3. Wong LJ, Chen TJ, Dai P, Bird L, Muenke M. Novel SNP at the common primer site of exon IIIa of FGFR 2 gene causes error in molecular diagnosis of craniosynostosis syndrome. Am J Med Genet 2001; 102: 282-5.
  • 4. Acrocephalopolysyndactyly (TypII (McKusick) acropcephalosyndactyly or Carpenter's Syndrome.). Report on cases and an observation of Syndrome of Marshall-Smith. Klin Pediatr 1997; 189: 120-30.
  • 5. Spranger JW, Langer LO, Wiedemann HR. Bone dysplasias. Pheledelphia, Saunders,1974-261.
  • 6. Wells TR, Falk FR, Senac MO, Vachon L. Acrocephalospondylosyndactyly- apossible new syndrome: analysis of the vertebral and intervertebral componenets. Pediatr Pathol 1990; 10: 117-31.
  • 7. al-Qattan MM, Phillips JH. Clinical features of Crouzon's syndrome patients with and without a positive familiy history of Crouzon's syndrome. J Craniofac Surg 1997; 8: 11-3.
  • 8. Proudman TW, Moore MH, Abbott AH, David DJ. Noncraniofacial manifestations of Crouzon's disease. J Craniofac Surg 199; 5: 218-22.
  • 9. Lawrence C, Kaplan Md. Clinical Assesment Multispecialty Management of apert syndrome. Clinics in Plastic Surgery 1991; 18: 2.
  • 10. Pissuan C,Van poperinghe M, GrumbachY,Audbert M, H elsema C, Risbourg B. Carpenter's Syndrome. Arch Fr Pediatr 1997; 34: 891-898.
  • 11. Anderson PJ, Hall CM, Evans RD, Jones BM, Hayward RD. Hand Anomalies in Crouzon Syndrome. Skeletal Radiol 1997; 26: 113-5.
  • 12. Proudman TW, Moore MH, Abbott AH, David DJ. Noncraniofacial Manifestations of Crouzon's Disease. J Craniofac Surg 1994; 5: 218-22.
  • 13. Anderson PJ, Hall CM, Evans RD, Jones BM, Hayward RD. The Feet in Crouzon Syndrome. J Craniofac. Genet Dev Biol 1997; 17: 43-7.
  • 14. Renier D, Lajeunie E, Arnaud E,Marchac D. Management of craniosynostoses. Childs Nerv Syst 2000; 16: 645-658.

Crouzon Syndrome: Neonatal Case Report

Year 2004, Volume: 5 Issue: 2, 27 - 29, 01.08.2004

Abstract

Six day old girl was admitted to hospital for jaundice and abnormalities of the head, face and eyes. Her physical examination showed synostosis of cranial sutures, brachycephaly, beak-like nose, exophthalmos and high arched palate. Crouzon syndrome was diagnosed by physical examination and imaging tecniques. This case was presented due to it's importance as a rarely seen syndrome and for being diagnosed due to phenotypic characteristics features.

References

  • 1. H a s l a m R H A . N e u r o l o g i c E v a l u a t i o n , Craniosynostosis: In: Nelson Textbook of Pediatrics 17 ed. Philadelphia: WB Saunders, 2004: 1992-93.
  • 2. Smith DW. Recognizable Patterns of Human Malformation Genetic, Embryologic and Clinical Aspects 3rd ed. Philadelphia: WB Saunders, 1982: 310-11
  • 3. Wong LJ, Chen TJ, Dai P, Bird L, Muenke M. Novel SNP at the common primer site of exon IIIa of FGFR 2 gene causes error in molecular diagnosis of craniosynostosis syndrome. Am J Med Genet 2001; 102: 282-5.
  • 4. Acrocephalopolysyndactyly (TypII (McKusick) acropcephalosyndactyly or Carpenter's Syndrome.). Report on cases and an observation of Syndrome of Marshall-Smith. Klin Pediatr 1997; 189: 120-30.
  • 5. Spranger JW, Langer LO, Wiedemann HR. Bone dysplasias. Pheledelphia, Saunders,1974-261.
  • 6. Wells TR, Falk FR, Senac MO, Vachon L. Acrocephalospondylosyndactyly- apossible new syndrome: analysis of the vertebral and intervertebral componenets. Pediatr Pathol 1990; 10: 117-31.
  • 7. al-Qattan MM, Phillips JH. Clinical features of Crouzon's syndrome patients with and without a positive familiy history of Crouzon's syndrome. J Craniofac Surg 1997; 8: 11-3.
  • 8. Proudman TW, Moore MH, Abbott AH, David DJ. Noncraniofacial manifestations of Crouzon's disease. J Craniofac Surg 199; 5: 218-22.
  • 9. Lawrence C, Kaplan Md. Clinical Assesment Multispecialty Management of apert syndrome. Clinics in Plastic Surgery 1991; 18: 2.
  • 10. Pissuan C,Van poperinghe M, GrumbachY,Audbert M, H elsema C, Risbourg B. Carpenter's Syndrome. Arch Fr Pediatr 1997; 34: 891-898.
  • 11. Anderson PJ, Hall CM, Evans RD, Jones BM, Hayward RD. Hand Anomalies in Crouzon Syndrome. Skeletal Radiol 1997; 26: 113-5.
  • 12. Proudman TW, Moore MH, Abbott AH, David DJ. Noncraniofacial Manifestations of Crouzon's Disease. J Craniofac Surg 1994; 5: 218-22.
  • 13. Anderson PJ, Hall CM, Evans RD, Jones BM, Hayward RD. The Feet in Crouzon Syndrome. J Craniofac. Genet Dev Biol 1997; 17: 43-7.
  • 14. Renier D, Lajeunie E, Arnaud E,Marchac D. Management of craniosynostoses. Childs Nerv Syst 2000; 16: 645-658.
There are 14 citations in total.

Details

Other ID JA27YB78FM
Journal Section Case Report
Authors

Murat Hızarcıoğlu This is me

Pamir Gülez This is me

Ertan Kayserili This is me

Hale Yener This is me

Serap Korkmaz This is me

Publication Date August 1, 2004
Published in Issue Year 2004 Volume: 5 Issue: 2

Cite

EndNote Hızarcıoğlu M, Gülez P, Kayserili E, Yener H, Korkmaz S (August 1, 2004) Crouzon Syndrome: Neonatal Case Report. Meandros Medical And Dental Journal 5 2 27–29.