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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 J+Pediatr+Genet
2012 ; 1
(1
): 25-31
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Fused teeth, macrodontia and increased caries are characteristic features of
neurofibromatosis type 1 patients with NF1 gene microdeletion
#MMPMID27625798
Kobayashi R
; Matsune K
; Ohashi H
J Pediatr Genet
2012[Mar]; 1
(1
): 25-31
PMID27625798
show ga
Neurofibromatosis type 1 (NF1) is the most common genetic condition caused by NF1
gene alteration. A 1.5 Mb submicroscopic deletion encompassing the entire NF1
gene, is known to be responsible for approximately 5% of NF1 cases. Patients with
NF1 deletion, compared to those with NF1 mutation tend to exhibit more severe
phenotypes. To know the possible differences in oral/dental features between NF1
deletion and NF1 mutation patients, we examined four patients with NF1 deletion
and three with NF1 mutation to compare their oral manifestations. Fused teeth in
the mandibular anterior region were found only in the patients with deletion
(2/4). Macrodontia was noted in all four patients with an NF1 deletion. Although
macrodontia was also found in one patient with a mutation, it was relatively mild
compared to the deletion patients. Dental caries were observed in both NF1
deletion (4/4) and mutation (2/3) patients. However, patients with NF1 deletions
showed more apparently severe caries (average number of dental caries 12.8) than
those with NF1 mutation (average number 5.5). Other features also noted in
patients with both deletions and mutations were high-arched palate, hypodontia
and malocclusion. Our study might suggest that fused teeth, macrodontia and
increased dental caries are distinctive manifestations of NF1 deletion. Providing
comprehensive dental care from early infancy would be very important to prevent
dental caries especially in patients with NF1 deletion.