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Contains fulltext : 204872.pdf (publisher's version ) (Closed access), We aimed to identify novel deletions and variants of TP63 associated with orofacial clefting (OFC). Copy number variants were assessed in three OFC families using microarray analysis. Subsequently, we analyzed TP63 in a cohort of 1072 individuals affected with OFC and 706 population-based controls using molecular inversion probes (MIPs). We identified partial deletions of TP63 in individuals from three families affected with OFC. In the OFC cohort, we identified several TP63 variants predicting to cause loss-of-function alleles, including a frameshift variant c.569_576del (p.(Ala190Aspfs*5)) and a nonsense variant c.997C>T (p.(Gln333*)) that introduces a premature stop codon in the DNA-binding domain. In addition, we identified the first missense variants in the oligomerization domain c.1213G>A (p.(Val405Met)), which occurred in individuals with OFC. This variant was shown to abrogate oligomerization of mutant p63 protein into oligomeric complexes, and therefore likely represents a loss-of-function allele rather than a dominant-negative. All of these variants were inherited from an unaffected parent, suggesting reduced penetrance of such loss-of-function alleles. Our data indicate that loss-of-function alleles in TP63 can also give rise to OFC as the main phenotype. We have uncovered the dosage-dependent functions of p63, which were previously rejected.

Contains fulltext : 191986.pdf (publisher's version ) (Closed access)

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1 juni 2010, Item does not contain fulltext, This case report describes the combined orthodontic and orthognathic management of a 14-year-old girl affected with Apert syndrome. She presented with a severe Class III skeletal relationship, midfacial hypoplasia and an large anterior open bite. Intraorally, she had severe crowding, a narrow maxilla and lateral posterior crossbites. The patient was treated with a combination of removable and fixed appliances, a transpalatal skeletal distractor and Le Fort I surgery. The extraoral characteristics improved and a good occlusal relationship between maxillary and mandibular teeth was achieved.

1 november 2010, Contains fulltext : 89089.pdf (publisher's version ) (Closed access), Hajdu-Cheney syndrome is a rare, probably autosomal dominant connective tissue disorder with a variable expressivity. It is characterized by an osteoporotic skeleton, acro-osteolysis, a proportionate short stature, and distinctive orofacial anomalies. The aim of this article is to focus on the orofacial manifestations in two sporadic cases and one familial case with Hajdu-Cheney syndrome. Several common dental and craniofacial features are described. In contrast to earlier proposed diagnostic features, these patients show persisting deciduous teeth, problematic tooth eruption, and tendency toward a Class III malocclusion.

The skeletal lesions of primary hyperparathyroidism, including brown tumour, are rare nowadays, with the practice of checking serum calcium levels leading to an earlier diagnosis of hyperparathyroidism. Clinical, laboratory, radiographic and histological investigations can lead to a correct diagnosis. Treatment of brown tumour focuses on the hyperparathyroidism, and is usually followed by a regression of the brown tumour. The diagnosis of hyperparathyroidism and brown tumour should be considered in patients with hypercalcaemia and an osteolytic expansive bone lesion. We present a patient where a brown tumour of the mandible was the presenting symptom of primary hyperparathyroidism.

Osteodistraction, a technique for new bone formation by the gradual separation of bony fragments, is a possible treatment for dysplasia. of the maxillofacial skeleton. However, preoperative assessment of the optimal distraction direction, of the osteotomy trajectory, and of the influence of this procedure on the outlook of a patient, is difficult to assess preoperatively. We report on an 3D image-based planning system for osteodistraction. Basically we adhere to a scene-based approach in which image derived visualizations and additional 3D structures are co-presented and manipulated. Osteotomy simulation with user-defined cutting trajectories, virtual distraction employing biomechanical models specific to the distraction type and evaluation tools based on a cephalometric reference frame, axe available in our planning environment. According to the surgeon's findings, different choices can be redone in order to optimize the therapy. To account for soft tissue implications, skin tissue deformations are calculated using a finite element elastic model based on tetrahedral elements, We report on results in the field of unilateral mandibular distraction. A detailed overview of the planning procedure is given by a case study.