Craniofacial and dental characteristics of Kabuki syndrome

Abstract

We describe oral manifestations in six patients (three females and three males aged 6 to 24 years) with Kabuki syndrome (KS), based on their physical, orthopantomographic, and cephalometric findings. All six patients had a high-arched palate, malocclusion, most commonly unilateral posterior cross-bite (5/6), severe maxillary recession and mid-facial hypoplasia. Other frequently observed oral manifestations included small dental arch and hypodontia. Three patients lacked permanent teeth, mostly the central/lateral incisors. Both tooth size (in primary and permanent teeth) and dental arch (in length and width) tended to be small. We would like to stress that oral care and management is a must for the well-being of KS patients.

Dental findings in Kabuki make‐up syndrome: a case report

“…In contrast with the findings from previous papers, 1,2,9–12,14,16,17,19 which reported that individuals with KMS typically present postnatal growth deficiency, this child had a stature compatible with his age. However, patients with KMS who have normal growth have also been described by others 5,6,16,17 . According to White et al, 27 low stature in people with KMS is actually less common than previously assumed.…”

“…Hypodontia and widely spaced teeth have been observed in over one‐third of the patient population with KMS 28 . Other typical oral manifestations in KMS include a high‐arched palate, missing teeth, malocclusion, microdontia, small dental arch, maxillary recession, and mid‐facial hypoplasia 10,11,16–19,21,24 . A recent article 20 reported on a young patient with KMS who had fusion and gemination in the primary dentition.…”

“…The craniofacial manifestations of KMS include epicanthus, strabismus, long palpebral fissures with eversion of the lateral part of the lower eyelid, high‐arched eyebrows with sparse hair in the lateral one‐third, large eyes, blue sclera, long and curved eyelashes, short nasal septum, broad depressed nasal root with a flat nasal tip, preauricular dimple, prominent cup‐shaped ears, and low posterior hairline 1–3,5,8–11,13,16–19 . These characteristics together give the patients a distinctive mask‐like facies.…”

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

“…C20orf133 was expressed in the mesenchymal components of the tooth-bud condensations at E14.5. Interestingly, dental anomalies such as hypodontia, malocclusion, microdontia and small dental arches, were seen in 68% of patients with KS in one study 48 , 49. Expression of the gene in the cells lining the vestibulocochlear and cochlear duct at stage E14.5, possibly explaining hearing loss, was reported in up to 82% of patients with KS 48.…”

Kabuki syndrome: a review

“…Dental anomalies are seen in over 60% of patients with KS (33). The most common finding is hypodontia, particularly of the central and lateral incisors and the premolars.…”