24 FAMILIAL CASE OF CROUZON SYNDROME.cdr

Crouzon syndrome is a rare craniofacial dysostosis with autosomal dominant mode of inheritance with variable phenotypic expression .It is characterized by early closure of cranial sutures leading to range of problems like calvarial deformities, midface hypoplasia and exopthalmus. Early diagnosis is critical in these cases to avoid complications like hearing and vision problems.There are 50% chances of transmission when one of the parents is affected. We hereby report a familial case of a 9yr old girl and mother along with pedigree analysis of the trait 1 2 3 Lavina Taneja, Vishal Arya , Puneeta Vohra Reader, Department of Oral Medicine and 2 Radiology, Professor, Department of Pedodontics and Preventive Dentistry, Faculty of Dental Sciences, SGT University,Gurgaon. INTRODUCTION : Louiss Edouard Octave Crouzon , a French neurosurgeon ,in 1912 first published a case of a mother and son with abnormal facial features. The eponymous syndrome was described by him as a classic triad of calvarial deformities,facial anomalies and exopthalmus. [1] Crouzon syndrome or craniofacial dysostosis is one of a rare syndrome occurring 1 in every 25,000 live births.[2]There is 50% risk of transmission if one of the parents has the disease. [3]There is autosomal dominant mode of inheritance is about 67% of cases others with autosomal recessive and spontaneous mutation have also been described.[ 4] The phenotypic expression of the abnormality varies between the affected members of same family. The order and rate of fusion is determining factor.The present case report highlights a familial case of a 9 year old female patient and mother along with pedigree analysis of trait running in maternal family. Case report A 9 yr old female patient reported to the department with the chief complaint of deposits on teeth since 6 months. This was her first dental visit. Medical history revealed recurrent eye infection and hearing problem. General examination revealed short stature and hand and feet were normal.She was of normal intelligence On extraoral examination examination patient had straight profile,frontal bossing,flat forehead,depressed nasal br idge,hypertelor ism, exopthalamous , short upper lip,low placed ears(figure 1). Figure 1: Frontal view of child showing hypertelorism, proptosis, flat forehead,short upper lip On intraoral examination there was edentulous space wrt 12 and 22, stains and calculus, ,high arched palate( figure 2) and crowding of lower anteriors. Maxillary arch was v shaped FAMILIAL CASE OF CROUZON SYNDROME : CASE REPORT AND REVIEW OF LITERATURE Journal of Dental Sciences University