The Smith-Lemli-Opitz syndrome and dentofacial anomalies diagnostic: Case reports and literature review.

OBJECTIVE: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder. It is due to a deficiency of 7-dehydrocholesterol reductase (DHCR7) that catalyses the reduction of 7-dehydrocholesterol (7-DHC) to cholesterol. The aim of this review is to gather all information, concerning diagnostic characteristics of this syndrome, with an emphasis on intraoral symptom presentation. MATERIALS AND METHODS: We conducted a review of the literature, including articles between 1964 and 2017. Data was collected regarding the clinical diagnosis, pathophysiology and treatment of SLOS patients. Moreover, two clinical cases are described, illustrating the oral and facial anomalies of SLOS patients, at the regional university hospital of Lille, France. DISCUSSION: Low cholesterol levels provoke a broad spectrum of clinical presentations, from mild to lethal forms. They can cause mental retardation, growth deficiency and congenital malformations. The SLOS features are often present at birth. Moreover, all the patients have facial anomalies. The dento-maxillofacial symptoms consist of crowded teeth, widely spaced incisors, oligodontia, polydontia, premature tooth eruption, enamel hypoplasia, a bifid uvula, broad alveolar ridges, bifid tongue, and Pierre-Robin syndrome symptoms (glossoptosis, retrognathia and cleft palate). These symptoms are warning signs and should increase the awareness of clinicians. CONCLUSIONS: All healthcare professionals can contribute to the SLOS patient diagnostics. The dento-maxillofacial anomalies, illustrated by two case reports, could help to detect undiagnosed patients. An early detection might improve the outcome of these patients, as cholesterol supplementation can improve symptoms. This study can benefit orthodontists by enabling them to recognize the clinical signs of SLOS in order to refer these young patients to a specialist if the diagnosis has not been established.

Cleidocranial Dysplasia: A Review of Clinical, Radiological, Genetic Implications and a Guidelines Proposal.

In this review, we aimed to depict the clinical, radiological, and genetic features of cleidocranial dysplasia (CCD) and to suggest management guidelines, based on our experience of 8 cases, with an emphasis given to dental complications.The most common craniofacial features of CCD that stand out are a patency of the anterior fontanelle, an inverted pear-shaped calvaria, a hypertelorism, a general midface retrusion, and a mandible prognathism, associated with an excessive mobility of the shoulders, a short stature, and teeth abnormalities such as supernumerary teeth and failure of eruption, in particular. RUNX2 is the only gene in which mutation is known to cause CCD, but mutations are detected in only 65% of all patients with a clinical diagnosis of CCD. Panoramic radiography is a valuable adjunct in confirming the diagnosis of CCD.Our experience allowed us to conclude that orthodontically aided eruption should always be attempted. However, to stabilize the occlusion and to improve facial esthetics, we recommend associated orthognathic surgery. When orthodontic treatment is partially efficient, prosthetic treatment options bring satisfactory results, in terms of occlusion. Nevertheless, when orthodontic treatment fails, we recommend to preserve as many native teeth as possible, and to combine orthognathic preprosthetic surgery and implant-supported prosthesis.In any case, an individualized treatment protocol, depending on the needs and demand of the patient, the age at diagnosis and social and economic circumstances, should be put forward.

Dentoskeletal sequellae after wearing of a mandibular advancement device in an OSAHS setting.

Mandibular advancement devices (MAD) are recommended in certain cases for the treatment of obstructive sleep apnea and hypopnea syndrome (OSAHS). The aim of this study was to make a retrospective investigation into the dental and skeletal effects in patients suffering from OSAHS after wearing an MAD, and according to the type of device, rigid or semi-rigid. Cephalometric criteria on lateral cephalograms before and after at least 6 months of treatment were analyzed. Twenty-two patients were included. We observed average labial tipping of the lower incisors (+4.1±5.6 [P=0.0023]) and reduced overbite (-1.6±2.0mm [P=0.0026]) and overjet (-1.4±2.3mm [P=0.0114]). Labial tipping of the mandibular incisors was more pronounced with semi-rigid MAD. Similarly, the decrease in overbite and overjet was more marked with the semi-rigid MAD. Medium-term wearing of MAD gives rise to dentally related occlusal changes, which can only be corrected by orthodontic treatment.