Dental Findings in Cornelia De Lange Syndrome

Abstract

Cornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac malformations. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of this syndrome. We actually want to present the case of a 10-year-old patient, who was admitted to our clinic for dental pain. The patient had the symptoms of Cornelia de Lange syndrome. During the oral examination of this patient, the patient was found to have the typical symptoms of Cornelia de Lange syndrome, such as micrognathia and delayed eruption in conjunction with the symptoms of the Hutchinson's syndrome, which had never been reported before.

Oral Manifestations in the Cornelia De Lange Syndrome: A Systematic Review of the Dental Literature.

“…Finally, in 2009, Toker et al [16] presented a case of a 10 year-old male that was experiencing dental pain, and whose mother reported having a history of preterm births. The patient had the affected teeth extracted under general anesthesia and there were no complications during the process or in the postoperative period.…”

“…Of the studies published to date regarding CdLS, we found 5 articles that included a single case report [12][13][14][15][16] and an article that included a sample of two patients [11]. (Table 2).…”

“…Their assessment indicates that they are not exclusive of the syndrome, since they can also present in other diseases characterized by the presence of oral patterns, seizures or difficulties with a proper oral hygiene. However, there are some features, such as delayed eruption [11,13,16], anterior open bite [12,15] or gingivitis [11,14], which are more common among patients with CdLS. The pathology associated with poor hygiene, like an early-onset [16] or multiple form of tooth decay [12,14] and periodontal disease [11,14], is closely related to this syndrome due to cognitive difficulties they present.…”

“…The unique presence of upper central incisors shaped like those of Hutchinson´s suggests a possible link between the symptoms of CdLS and Hutchinson syndrome [16]. A controlled diet, topical fluoride application and periodic check-ups are crucial in the management of these patients [11,14,15] and may limit the use of sedation and general anesthesia for the most extreme cases.…”

“…A controlled diet, topical fluoride application and periodic check-ups are crucial in the management of these patients [11,14,15] and may limit the use of sedation and general anesthesia for the most extreme cases. In terms of behavior management, it is necessary to consider limitations in the communicative ability of the patient, mental retardation and lack of [12,14,16] due to possible health risks, and the lack of cooperation necessary for proper dental treatment. It can also be exploited to perform other procedures as in the case presented by Grau Carbó et al [14] who made a dilated esophagus with fibrogastroscopy.…”