Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects.

Neural tube defects (NTDs) are a group of congenital malformations of the central nervous system occurring at an average rate of 1 per 1,000 human pregnancies worldwide. Numerous genetic and environmental factors are discussed to be relevant in their etiology. In mice, mutants in >200 genes including the planar cell polarity (PCP) pathway are known to cause NTDs, and recently, heterozygous mutations in the human VANGL1 gene have been described in a small subset of patients with NTDs. We performed a VANGL1 mutation analysis in 144 unrelated individuals with NTDs from Slovakia, Romania and Germany and identified 3 heterozygous missense mutations: c.613G>A (p.Gly205Arg) with an open spina bifida (lumbosacral meningomyelocele), c.557G>A (p.Arg186His) with a closed spina bifida (tethered cord and spinal lipoma) and c.518G>A (p.Arg173His) with an unknown NTD. The c.613G>A mutation was also found in a healthy sibling. None of the mutations were described previously. Findings support that heterozygous VANGL1 mutations represent hypomorphs or conditional mutants predisposing to NTDs and occur at a frequency of approximately 2.1% of open and closed spinal NTDs. The mutations (p.Arg173His, p.Arg186His, p.Gly205Arg) modified conserved regions of the VANGL1 protein and shared similarities with previously described mutants, providing further evidence for the presence of mutational hot spots in these patients.

Subepithelial connective tissue graft for root coverage: clinical case reports and histologic evaluation.

If the clinical goal of the periodontal plastic surgery is the complete root coverage of gingival recessions, then the microscopically goal standard is to obtain a true periodontal regeneration. Only the histological examination can reveal cellular events unrolled into the grafted tissue-root surface interface and the nature of the clinically observed attachment. To our knowledge, there are no studies that obtained the biopsies of grafted tissues from humans, in vivo, and so, the aim of the present study was to develop such a method, using a bone marrow biopsy needle. Two patients with gingival recessions were treated with coronally advanced flap and subepithelial connective tissue graft, and the clinical and histological results were observed. Complete root coverage was obtained for both cases. Clinically, the grafted tissues seemed to be attached to the root surfaces. The histological findings revealed dense grafted tissues, providing long-term stability of the area. No ligament or bone, characteristic for periodontal regeneration were observed. However, no sign of healing characterized by a long junctional epithelium was observed either. This indicated that the healing that occurred in our cases was a long connective tissue attachment, which has been shown to be stable over time. However, even if the method we proposed is not invasive, it is very difficult to convince the patient to accept a biopsy elevation once the exposed root surface was covered.

Oral manifestations in Apert syndrome: case presentation and a brief review of the literature.

BACKGROUND: The present paper describes the oral manifestations in a 16-year-old boy previously diagnosed with Apert syndrome. PATIENT AND METHODS: The extraoral and intraoral pathological findings were recorded. The following intraoral parameters were recorded: plaque and calculus deposits, dental caries, periodontal status, malpositions, and occlusion. For the upper anterior teeth, dental shade was recorded, using a dental spectrophotometer. The corresponding diagnostics were established. A treatment plan was established and discussed with the child's parents. RESULTS: The dysmorphic characters were obvious, including acrocephaly, prominent forehead, hypoplastic midface, hypertelorism, short nose. The intraoral features revealed a bifid uvula and Byzantine-arch palate associated with lateral swellings of the palatine processes, one on either side of the middle miming a pseudocleft in the midline. Heavy dental plaque, dental calculus, congestion and swelling of the gingiva and periodontal pseudopockets associated with anterior teeth were recorded. Dental caries on anterior and posterior teeth were present. Severe maxillary dental crowding associated with the rotation of central incisors and the palatal position of second bicuspids and the malposition of the mandibular anterior teeth were observed. No intrinsic discoloration of the dental structure was recorded. Severe anterior and posterior open bite and crossbite were observed. Other signs were represented by syndactyly involving partial fusion of the fingers and toes. Also, mild mental deficiency was recorded. CONCLUSIONS: The information and the strong motivation of the parents regarding the necessity of the treatment and the extensive use of home prevention methods are essential to control oral conditions in these patients.