Dental findings associated with the malformations of CHARGE

Resident: J. Hencler
Date: 01/08/2010
Article title: Dental findings associated with the malformations of CHARGE
Author(s): Sheneifi, Cottrell, Hughes
Journal: Pediatric Dentistry-24:1, 2002

Major topic: CHARGE

Type of Article: Review of literature and case report

Main Purpose: Present the non-random clustering of congenital malformations associated with CHARGE and the dental findings that are often observed with this condition.

Overview of method of research: Review and case report.

Background:
In 1979 a group of congenital anomalies was described and gave the acronym CHARGE representing:
• C: coloboma (hole) associated w/ the choroids, iris, retina or optic nerve.
• H: heart disease, which may include tetralogy of Fallot, septal defect or valvular stenosis
• A: atresia of choanae (back of nasal passage blocked by abnormal bony or soft tissue) which results in breathing difficulties and cyanosis in the first hr of life. Ultimately will require surgical opening.
• R: retarded mental development
• G: gential hypoplasia
• E: ear anomalies and/or deafness

A range of additional congenital abnormalities is now accepted to form part of the CHARGE association and include:
• Unilateral facial nerve palsey
• Orofacial clefts
• Renal abnormalities
• Characteristic facies (square face with malar flattening, pinched nostrils, and a prominent columella)

Dx of CHARGE requires at least 4 of 6 characteristics to be present. Abnormalities of CHARGE have been characterized as major, intermediate, and minor criteria. Major criteria are the findings that commonly occur in the CHARGE association but are rare in other conditions and Minor criteria occur less frequently, or are less specific to CHARGE. The etiology of CHARGE remains unknown although autosomal dominant and recessive inheritances are reported in sporadic cases. It is believed to occur in 1:10,000 live births. No teratogens have been implicated. Dental findings associated with CHARGE have been reported in a few publications and include delayed eruption of permanent dentition and mandibular retrognathism, absence of lower perm central incisor, two cases of only one maxillary central incisor, and taurodontism of the pulp chambers of primary molars.

Case Report:
10 year old male was dx with CHARGE at 13 wks. Pregnancy and birth non-remarkable with no family hx reported. Patient presents with choanal atresia, atrial septal defect requiring antibiotic prophylaxis, developmental delays, neurological abnormalities, dysmorphic facial features, and left optic nerve coloboma. Clinical dental exam revealed severe gingivitis, numerous carious primary and permanent teeth, high maxillary frenum attachment, and constriction of the palate. Radiographic findings include:
• Ectopic eruption #3
• Submergence #B
• Congenital absence #5
• Congenital absence #11
• Impaction/displacement #30 and 31 with associated radiolucency (lesion determined to be an odontogenic fibroma)

Authors suggested the impaction of #30 and ectopic eruption #3 may be related to the right side hypoplasia and facial asymmetry in this patient. No relationship between these two factors was offered. All treatment was completed under GA in the OR and included radiographs, EXT #31,K,S,T, routine restorative, and preventative procedures.

Summary of conclusions:
Previous dental findings with CHARGE association have included congenital absence of maxillary central incisors and delayed eruption of permanent teeth. In this case, a 10 year old boy exhibits delayed eruption, congenital absence of teeth, ectopic eruption of maxillary permanent first molars, submergence of primary molars, and an odontogenic fibroma associated with an impacted mandibular first permanent molar. A patient with CHARGE association will require a multi-specialty approach to treatment with regular clinical and radiographic monitoring.

Assessment of article:
Good article with much detailed information. The fact that CHARGE association can present with so many different anomalies must make diagnosis and treatment very challenging. It seems articles reporting dental anomalies of CHARGE patients are few and far between.