A familial case of popliteal pterygium syndrome.

Popliteal pterygium syndrome (PPS) is a rare malformation disorder characterized by autosomal dominant inheritance, highly variable expressivity and incomplete penetrance. The disorder is caused by the mutation of the IRF6 gene and the respective protein, which belongs to a family of nine transcription factors and is involved in the differentiation and proliferation of keratinocytes. Mutations in the IRF6 gene give rise to popliteal pterygium syndrome, Van Der Woude syndrome and nonsyndromic orofacial clefts. The anomalies from which affected patients suffer can be subdivided into alterations of the orofacial region, the musculoskeletal system and the genitals. Diagnosis is difficult, as is differential diagnosis, due to the variability of the manifestations. Prenatal diagnosis is possible by means of sequence analysis of the IRF6 gene in DNA extracted from the chorionic villus or amniotic fluid, or by means of intrauterine ultrasound. The prognosis is generally good, with normal mental development and the possibility to correct most of the alterations through targeted surgery. The case presented in this study involves two patients: a father and daughter who suffer from PPS, of whom the former was not diagnosed at birth. The two patients have undergone numerous operations over the years on various parts of the body and sequence analysis of the IRF6 gene, which revealed the presence of a mutation in the target site.

Mandibular distraction of the body and ramus.

With the ever increasing interest in the field of osteodistraction techniques, the mandible is certainly the most studied anatomical site, both experimentally and clinically. Currently, the methods of mandibular distraction can be classified by position (intra- or extraoral), by the direction of distraction and by the site of application (toothborn, boneborn or hybrid fixation). To guarantee good results from the osteodistraction procedure, it is fundamental to have an accurate preoperative plan considering the correct classification and evaluation of the patient combined with a valid project regarding the direction of the distraction vector. One of the most important aspects to consider is the orientation of the distractor, especially if the defect to be corrected is three-dimensional. Regarding the correct planning of the operation, knowing the secondary effects of the distraction on the soft tissues, muscles and nerves, the temporomandibular joint and velopharyngeal functioning is of fundamental importance. It is worth considering particular situations in which osteodistraction is extremely helpful in maxillofacial surgery, for example in the construction of a neocondyle, in bone replacement during oncologic interventions, in obstructive sleep apnea correction and in hemi-mandibular reconstruction.

Osteodistraction in the craniofacial region.

In the specific field of maxillofacial surgery, the use of osseous distraction is always more and more helpful not only in the rehabilitation of malformation pathologies, but also in the clinical situations that require bone deficit correction resulting from traumatic events and postsurgical effects, for example oncologic surgery. The reason for this versatility in the distraction protocols is, undoubtedly, due to the fact that, at present, they are valid surgical methods in alternative to or supporting maxillofacial surgery, since they are feasible from a very early age and they obtain a level of distraction that is often higher than with orthopedic devices or conventional surgery. There are multiple indications for osteodistraction and they range from cases of hyper- or hypodevelopment of the maxilla and mandible, of both their anteroposterior and transverse components, to complex syndromes such as cleft lip and palate. Even the clinical distraction of the upper and middle thirds of the cranium, through a coronal craniotomy, has been shown to be a safe surgical procedure and it allows, for example, the successful rehabilitation of adult patients suffering from hemifacial microsomia or craniosynostosis. With the continuous and constant evolution of the integration of osteodistraction principles in the rehabilitation of the craniofacial region, an ever-more effective interdisciplinary relationship between orthodontics and osteodistraction has been seen with growing interest. More often treatment plans are programmed in which the orthodontic and osteodistractive phases are integrated and complete each other, each supporting the other. Scientific and clinical progress achieved in this field in recent years, allows more and more refined therapeutic solutions to be programmed, permitting craniofacial operations and to repair an ankylotic dental arch or reposition osteointegrated implants to the most convenient bone sites.

Structural dentofacial variations in maxilla expansion.

BACKGROUND: The control of vertical dimension is important in those subjects who need a correction of the maxillary transversal diameters, in order to project a correct therapeutical plan and not to make worse an eventual contemporary long-face. This research intends to consider the vertical dimension changes of the cranio-facial middle third caused by palatal expansion, in relation to technique and patient's age. METHODS: We have compared orthodontic-orthopedic expansion both with elastic appliances ("w" expansion palatal arch), stiff ones (Hyrax-type appliance) and surgically assisted expansion which combines the action of Hyrax-type appliance with a bilateral corticotomy of zygomatic buttress. Among treatments of this kind which have been carried out in Odontological Clinic of University of Verona, we have selected three groups of subjects who have been treated with orthopedic expansion the first one in infantile age, the second one in adult age, and the third one with surgically assisted expansion. At the end of the treatment, we have evaluated dimension changes of the cranio-facial third middle caused by therapy, with the aid of a cephalometric analysis made on purpose. RESULTS: The results obtained are similar in the case of orthopedic expansion in young people and in surgically assisted expansion, while the increase of vertical dimension caused by the orthopedics expansion in grown-up people is more substantial. CONCLUSIONS: Considering these data, it appears that the surgically assisted expansion is more effectual and physiological for the correction of transversal deficiencies of maxilla in grown-up people.