Dental findings associated with the malformations of CHARGE

Department of Pediatric Dentistry
Lutheran Medical Center

Resident’s Name: Craig Elice Date: 6/11/2010
Article title: Dental findings associated with the malformations of CHARGE
Author(s): Sheneifi TA, Cottrell DA, Hughes C..
Journal: Ped Dent: 24:1
Month, Year: 2002 43-6
Major topic: CHARGE
Type of Article: Case Report
What is affected in this syndrome? Major criteria for diagnosis include Colomba of the eye, Atresia of Choanae, multiple cranial nerve deficits including deafness, vision impairment, poor swallowing; and Ear abnormalities involving the inner, middle, and outer ear. The choanal atresia causes breathing difficulties and cyanosis within the first hour of life and requires surgical intervention early in life. Minor criteria include Heart defects like tetralogy of Fallot, septal defects or valvular stenosis, genital hypoplasia, orofacial clefting, trachoesophageal fistulas requiring a feeding tube, short stature and developmental delays.
Etiology: Unknown. Affects 1 in 10,000 live births
When is the diagnosis made? Diagnosis is usually made in infancy based on a clustering of congenital malformations. In cases of bilateral severe choanal atresia the patients turn blue in early infancy when resting.
What are the systemic or medical conditions associated with the syndrome that are critical concerns for dental work? Several conditions affect the methodology used to treat patients with CHARGE. Children usually have developmental delays affecting management of the patient. The patient in the case report exhibited behavioral difficulties requiring general anesthesia to manage the patient. Choanal atresia may affect airway management, Cardiac septal defects require antibiotic coverage because of the risk of endocarditis.
What factors influence dental care or cause the need for dental treatment? Because of behavior issues, the patients frequently have poor oral hygiene, and associated gingivitis. Rampant decay is a frequent finding. Delayed eruption of the permanent teeth and mandibular retrognatia have also been reported. In the case report, impacted teeth and congenitally missing teeth were noted as well as an odontogenic fibroma of the mandible.
New information? Genetic tests are available which have a limited degree of success in diagnosis because some children have a negative test, yet have CHARGE. Early intervention is a key element to success in encouraging development of the child. In many cases, intelligence is normal, but with vision and hearing loss this can be masked.