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CASE REPORT: CASE OF CORNELIA DE LANGE SYNDROME

Mohd Fazli FH, Hamzah SZ, Francis JF
Introduction: Cornelia de Lange Syndrome (CDLS) is a multiple anomaly congenital disease
characterized with a growth and developmental delay, a distinct facial appearance and
involves multiple malformation mainly skeletal, gastrointestinal, cardiac malformation and
craniofacial deformities. It was first described by a Dutch Pediatrician named Cornelia de
Lange in 1933. Cornelia de Lange Syndrome is generally being described as an intellectual
impairment associated with a several group of physical malformation. The diagnosis for
this syndrome can be based on clinical feature alone. Genetic mutation in the human
homolog of the Drosophila melanogaster Nipped-B gene (NIPBL) is one of the main cause
for this syndrome. Objective: To identify oral manifestation and the treatment needs for
patient with Cornelia de Lange Syndrome. Case report: A 27 years old Chinese male
diagnosed with Cornelia de Lange Syndrome was referred to Special Needs Dental Clinic
with a chief complaint of bleeding gums. Patient underwent comprehensive dental
treatment under general anaesthesia 10 years ago which was his last visit to a dental facility.
Dental examination done for this patient during his first visit to Special Needs Dentistry
clinic, Hospital Kajang indicated a fair oral hygiene. Patient was uncooperative during
dental examination and treatment. Diagnosis: Generalized gingivitis with caries on palatal
of 21. Conclusion: Dentitions among patients with Cornelia de Lange Syndrome are
identified as normal with no distinct abnormalities. However, there are differences in other
oral features such as thin upper lip, long philtrum, downturned angle of the mouth and
high arch palate. Dental treatment was performed chairside with behavioural guidance and
moderate clinical holding consented by parents.

Oral Presentation at the National Oral Health Research Day on 23 – 24 April 2019 at Eastin Hotel, Petaling Jaya
th
Dr Farah Hidayah Mohd Fazli
Dr Siti Zaleha Hamzah
Special Care Dentistry Unit
Kajang Hospital
Kajang, Selangor

Dr Jessica Francis
Special Care Dentistry Unit
Umum Sarawak Hospital
Kuching Sarawak

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