World J Oral Maxillofac Surg | Volume 2, Issue 1 | Case Report | Open Access

Dilemmas on a Case with Craniosynostosis Diagnosed as Pfeiffer Syndrome by DNA Analysis

Bazopoulou Kyrkanidou E^1*, Eleftheriadis E¹, Nassi H², Bitsanis E³, Petersen MB⁴ and Wilkie AOM⁵

¹Department of Oral Pathology and Surgery, University of Athens, Greece
²Department of Radiology, Aghia Sophia Children’s Hospital, Greece
³Division of Orthodontics, University of Athens, Greece
⁴Department of Genetics, Institute of Child Health, Greece
⁵Department of Medicine, John Radcliffe Hospital, UK

^*Correspondance to: Bazopoulou Kyrkanidou E 

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Abstract

A case with craniosynostosis, facial dysmorphia, fingers, toes, and multiple skeletal anomalies syndrome is presented. The patient, a 28 years old female had normal growth and psychomotor development. All the family members were apparently normal. On a phenotypic basis alone, she put diagnostic dilemmas finally solved by DNA analysis.

Citation:

Bazopoulou Kyrkanidou E, Eleftheriadis E, Nassi H, Bitsanis E, Petersen MB, Wilkie AOM. Dilemmas on a Case with Craniosynostosis Diagnosed as Pfeiffer Syndrome by DNA Analysis. World J Oral Maxillofac Surg. 2019;2(1):1019.