Increased Prevalence of Minor Physical Anomalies Among the Healthy First-Degree Relatives of Bipolar I Patients – Results With the Méhes Scale

Minor physical anomalies are somatic markers of aberrant neurodevelopment, so the higher prevalence of these signs among the relatives of bipolar I patients can confirm minor physical anomalies as endophenotypes. The aim of the study was to evaluate the prevalence of minor physical anomalies in first-degree healthy relatives of patients with bipolar I disorder compared to normal control subjects. Using a list of 57 minor physical anomalies (the Méhes Scale), 20 first-degree unaffected relatives of patients with the diagnosis of bipolar I disorder and as a comparison 20 matched normal control subjects were examined. Minor physical anomalies were more common in the ear, head, mouth and trunk regions among the relatives of bipolar I patients compared to normal controls. By the differentiation of minor malformations and phenogenetic variants, we have found that both minor malformations and phenogenetic variants were more common among the relatives of bipolar I patients compared to the control group, while individual analyses showed, that one minor malformation (sole crease) and one phenogenetic variant (high arched palate) were more prevalent in the relative group. This is the first report in literature on the increased prevalence of minor physical anomalies among the first-degree unaffected relatives of bipolar I patients. The study support the concept, that minor physical anomalies can be endophenotypic markers of bipolar I affective disorder.

SPECIAL CHILD CARE: WEST SYNDROME MANAGEMENT DURING COVID-19 PANDEMIC

West syndrome is a clinical condition characterized by the combination of an abnormal EEG showing chaotic pattern called hypsarrhythmia, infantile spasms, and delayed development or loss of acquired milestones. The oral manifestations of the conditions are wide and varied ranging from poor oral hygiene, bleeding gums, periodontitis, altered chronology and delayed eruption, high arched palate and extensive caries in multiple teeth. COVID-19 has affected the provision of dental care to all, especially special child care. Henceforth with an aim towards provision of treatment for reliving pain in needful patient, the oral health management was carried out keeping in mind the current pandemic scenario and practice restrictions.

Orofacial Findings and Dental Management of Noonan Syndrome: A Case Report

Noonan Syndrome (NS) is an autosomal dominant condition caused by mutations in multiple genes in the RAS-MAP (Mitogen-Activated Protein) Kinase pathway. It is typically characterised by short stature, broad webbed neck, abnormal chest shape, congenital heart defects and developmental delay. Oral manifestations include high arched palate, micrognathia, malocclusion, impacted teeth and jaw bones. Presented here is a case of NS in a 26-year-old female, reported to the dental clinic in College of Dentistry, Princess Nourah Bint Abdulrahman University. The cranio-dentofacial features of this syndrome can be diagnosed by the dentist and these features can be unrecognised by the physician. The dentofacial features of the patient included a broad forehead, down slanting palpebral fissure, flat base of the nose and low junction of the ears, prominent nasolabial folds, Class III molar malocclusion, edge-to-edge bite, high arched palate, and congenitally missing teeth. The present patient was first diagnosed by a dental professional and hence, this case report aims to present this syndrome from a dental viewpoint. The treatment plan was to improve her oral hygiene, retain the deciduous tooth and space maintainer in the congenitally missing tooth to preserve space for the future prosthodontic treatment.

Orodental, Facial and Clinical Features of Mutation-Positive Noonan Syndrome: A Monocentric Study

Objective: To evaluate orodental, facial, clinical and molecular characteristics of the patients with Noonan Syndrome (NS).Study Design: The orodental, clinical and molecular characteristics of 29 mutation-positive patients with NS were recorded. Orodental examination was performed in 17 patients. All exons and exonintron boundries of PTPN11 and SOS1 genes were analyzed by Sanger sequencing. Results: A total of 29 patients with NS from 27 unrelated families were included in the study. Seventeen patients were examined by a specialist in oral medicine. The most common orodental findings were high-arched palate (n=13), gingivitis (n=6) and severe caries (n=6). Anterior open bite, posterior cross bite, Class II malocclusion, hypodontia, prognathism (maxillary or mandibular), macroglossia and gingival hyperplasia were also detected. Thirteen different mutations were observed in PTPN11 gene and exon 3 was the hotspot region. Hypodontia was detected in two patients who had the same mutation in PTPN11 gene, c.181G>A, p.D61N. Conclusion: This study indicated a high prevalance of orodental problems including high-arched palate, severe dental caries and gingivitis in patients with mutation-positive NS. The mutation in PTPN11 gene, c.181G>A, p.D61N, may be associated with hypodontia in patients with NS.

Digital Workflow for CBCT-Guided Customized Miniscrew-Assisted Rapid Palatal Expansion (3D Digital MARPE): A Clinical Innovation

Miniscrew-assisted rapid palatal expansion (MARPE) has added a new dimension to the world of orthodontics with its use in skeletal expansion of transverse problems in adult population. However, there are few limitations noted with the use of prefabricated MARPE designs such as adaptation to the palate or minscrew fit in cases of high arched palate, which compromises with the anchorage and final outcome. The aim of this article is to use digital workflow to 3d print a MARPE with the aid of cone beam computed tomography, which would overcome the deficiencies of a prefabricated MARPE design and would provide greater rigidity and anchorage value, and predictable skeletal expansion.

Noonan syndrome with CT-scan evidence of brain atrophy and ventriculomegaly

Background: Noonan syndrome is congenital syndrome that occur sporadically or inherited as an autosomal dominant disorder, and is associated with a wide spectrum of clinical manifestations that vary greatly in range and severity including facial dysmorphism with low set ears, bulbous nose, micrognathia, and thick upper eyelids, mental retardation, nuchal folding, a low posterior hairline, high arched palate and widely space nipples. Cerebral abnormalities have been rarely associated with this syndrome. The aim of this paper is report the rare occurrence of cerebral abnormalities in an Iraqi girl with Noonan syndrome. Methods: A ten month girl with dysmorphic features, growth retardation and psychomotor retardation was studied. Results: The girl had a sporadic form of Noonan with predominant cerebral manifestations and without congenital heart defect. She had growth and psychomotor retardation, hypotonia, craniofacial dysmorphism with low set ears, bulbous nose, thick upper eyelid, high arched palate, and micrognathia. She also had widely space nipples, nuchal folding and a low posterior hairline. CT-scan showed ventriculopathy with evidence of brain atrophy. Conclusion: This paper reported a very rare association of Noonan syndrome with CT-scan evidence of ventriculopathy and brain atrophy in an Iraqi girl.

Adenoid hypertrophy in adults

<p class="abstract"><strong>Background:</strong> Adenoid is a nasopharyngeal tonsil becomes active between 3 to 7 years of age. Starts involution by adolescence. Few of the occasions, the adenoid persists causing various symptoms including ear, nose, throat and facial deformities. It is also important while addressing the cause for nasal obstruction due to the co-existent adenoid tissue which may fail to diagnose pre-operatively becomes an on-table surprise.</p><p class="abstract"><strong>Methods:</strong> Adult patients above 16 years are subjected to study. Routine clinical examination done followed by diagnostic nasal endoscopy and the size of the adenoid tissue and other associated findings are recorded. </p><p class="abstract"><strong>Results:</strong> 100 patients were included in the study and gradings were done.</p><p class="abstract"><strong>Conclusions:</strong> We conclude the presence of adenoid tissue is due to persistence of a childhood problem, which is supported by presence of associated findings like high arched palate, supernumerary teeth.</p>