Crouzons syndrome- A rare genetic disorder

Authors : Babita Niranjan, Ashutosh Dubey, Nikita Agrawal, Raj Mourya, N D Shashikiran

DOI : 10.18231/j.ijohd.2020.035

Volume : 6

Issue : 2

Year : 2020

Page No : 160-162

Background: Crouzon syndrome is a rare genetic autosomal dominant disorder characterized by distinctive
malformations of the skull and cranio-facial region.
Case Description: The parents of a 7 years old boy reported with a complaint of pain in the upper front
and back teeth region since 3-4months. He also presented with typical features of craniofacial deformity,
maxillary hypoplasia, exophthalmos, hypertelosrism, ptosis are present among other manifestations. The
overall presentation gave an indication towards a clinical diagnosis of Crouzon’s syndrome. This case report
describes the different clinical features and management under general anesthesia of a pediatric patient who
reported with characteristic findings of this syndrome.
Conclusion: This case report emphasizes the important role of a pediatric dentist in diagnosing such
syndrome and to provide corrective measure along with co-ordination of a multi-disciplinary team. The
team may comprise a geneticist, neurosurgeon, psychologist, speech and language therapist, nose surgeons
and respiratory care specialist.

Keywords: Crouzon, Cranio-facial deformity, Autosomal dominant disorder.


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