1/30. Aplasia of the vertex without scalp defect.We report a case of an extremely rare craniofacial condition, which, to our knowledge, has previously been reported once only. A male infant presented with a giant congenital bone defect of the skull, in the vertex region (10 x 20 cm) and without scalp deficiency. Minimal turricephaly and moderate orbital hypertelorism were associated with slight limb abnormalities, but psychometrical assessments appeared normal. Nonsurgical treatment was initially decided upon, but spontaneous reossification was so moderate that skull reconstruction was carried out at 28 months of age because of the risk of trauma. A full-size resin cephalic skeletal reconstruction was obtained according to three-dimensional computed tomography using stereolithographic techniques. A titanium plate was customized on the resin model for ideal adaptation to the convex skull defect (8 x 16 cm). Surgery was simply performed, consisting of a preliminary undermining between the dura mater and the scalp and screwing of the custom titanium plate. The initial follow-up was uneventful.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
2/30. Dysgenesis of the internal carotid artery associated with transsphenoidal encephalocele: a neural crest syndrome?We describe two original cases of internal carotid artery dysgenesis associated with a malformative spectrum, which includes transsphenoidal encephalocele, optic nerve coloboma, hypopituitarism, and hypertelorism. Cephalic neural crest cells migrate to various regions in the head and neck where they contribute to the development of structures as diverse as the anterior skull base, the walls of the craniofacial arteries, the forebrain, and the face. Data suggest that the link between these rare malformations is abnormal neural crest development.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
3/30. A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay.We report a 16-year-old boy with multiple craniofacial and skeletal dysmorphic features including brachycephaly, acrocephaly, hypertelorism, wide palpebral fissures, broad nose, anteverted nares, broad columella, long and smooth philtrum, thin upper lip, macrostomia, carp-like mouth, micrognathia, low-set and posteriorly angulated ears with small and abnormal pinnae, a low posterior hairline, a short neck, hypoplastic and widely-spaced nipples, multiple severe pterygia, an umbilical hernia, metatarsus varus, low implantation of the halluces, and delayed motor and language development. An MRI of the head showed bilateral frontal pachygyria but no sign of heterotopia. The unique features of our patient suggest that he represents a new syndrome.- - - - - - - - - - ranking = 5keywords = craniofacial (Clic here for more details about this article) |
4/30. Total anomalous pulmonary venous connection and a constellation of craniofacial, skeletal, and urogenital anomalies in a newborn and similar features in his 36-year-old father.We report on a newborn male born to non-consanguineous parents with total anomalous pulmonary venous connection (TAPVC) and additional findings of malformed ears, hypertelorism, brachyphalangy in the hands, pterygium of the elbows, knees, and wrists, complex lower limb pre-axial polydactyly, tibial shortening, clubfeet, horseshoe kidney and a micropenis. He had a 46,XY karyotype. His 36-year-old father had similar craniofacial and limb anomalies suggesting an autosomal dominant syndrome with variable expression. Our patients may represent the 3rd and 4th examples of a newly-described syndrome by Baraitser et al. [(1997) Clin Dysmorphol 6:111-121] which is distinguished by malformed ears, complex pre-axial polydactyly and tibial aplasia in the lower limbs, severe brachyphalangy in the hands, and a micropenis.- - - - - - - - - - ranking = 5keywords = craniofacial (Clic here for more details about this article) |
5/30. Surgical treatment of frontoethmoidal encephalocele: a case report.This study reports a patient affected by congenital frontoethmoidal encephalocele. The cause of this malformation is unknown. A preoperative selective diagnosis evaluation is necessary. The workup should include an accurate clinical examination associated with radiological study (two- and three-dimensional computed tomography, magnetic resonance imaging, etc). The aim of the surgical treatment is to restore the functional brain tissue in the cranial cavity, perform dural repair, correct bone lack and other associated facial malformations (hypertelorism, orbital dystopia, etc.). A multidisciplinary team approach is necessary to resolve the brain herniation and to correct splanchnocranium malformations frequently associated with encephalocele. Cranial flap with orbital osteotomies has been performed; this operation permits correction of the hypertelorism and of the orbital dystopia associated with this malformation. In bone reconstructions, miniplates have been used as fixation devices. In adults we generally use titanium, but resorbable devices are required in children because of growing tissues. A restoration of craniofacial malformations with good aesthetic and functional results is achieved with early surgery.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
6/30. Schinzel-Giedion syndrome: interesting facial and orodental features, and dental management.Schinzel-Giedion syndrome comprises multiple congenital anomalies. The orofacial features include coarse facies, frontal bossing, ocular hypertelorism, anterior open bite and macrodontia. Two cases are presented in which the presence of specific craniofacial anomalies with bilateral hydronephrosis confirmed the diagnosis. In one patient, bottle-feeding was associated with caries in maxillary central and lateral incisors, but the second patient was permanently tube fed and did not experience any dental caries. Clinical management of these patients requires a coordinated approach from a team of medical and dental specialists.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
7/30. Public domain computer-aided surgery (CAS) in orthodontic and maxillofacial surgery.BACKGROUND: Computer-aided virtual three-dimensional (3D) surgical simulation assists the necessary visual understanding of complex pathological situations but has so far been dependent on expensive hardware and software. METHOD: For the first time a non-commercial, user-orientated application for orthognathic and craniofacial surgical simulation has been introduced, based on freeware NIH Image 1.62 provided by the National Institute of mental health (NIMH). Use and limitations are demonstrated here by the example of hypertelorism surgery. The osteotomy lines and the amount of resection for outward positioning of the orbits were determined by the surgeon on a workstation using CT data. Possible movement patterns of the osteotomy fragments were rotations, sagittal and transversal movements or combinations of these. The program then allows the calculation of anatomical distances on the screen in a 1:1 relation. Normative values according to age and pathological anatomy determine the degree of displacement. The program calculates the new position of the osteotomy fragments and transfers the data of the segment movement to the original CT data. RESULTS: 3D visualization of bone and soft tissue contours have been produced with an acceptable quality on a workstation for the demonstration and visual understanding of the surgical plan. Evaluation of a postoperative CT showed that the amount of movement and size of bone resection in the simulation was slightly overestimated rather than underestimated. This was also dependent on the complexity of the pathological anatomy and on how experienced the surgeon was. CONCLUSION: The use of 3D simulation programs allows a better understanding of the pathological anatomy in all dimensions, and in many cases enables limitations to be recognized in advance. The public domain program makes a major contribution to the quality of orthognathic and craniofacial surgical planning through cost-free usability, and supports continuous development and exchange of experience.- - - - - - - - - - ranking = 2keywords = craniofacial (Clic here for more details about this article) |
8/30. Roberts syndrome, normal cell division, and normal intelligence.Roberts-SC phocomelia syndrome (RS) is an autosomal recessive disorder of symmetric limb defects, craniofacial abnormalities, pre- and postnatal growth retardation, and mental retardation. patients with RS have been reported to have premature separation of heterochromatin of many chromosomes and abnormalities in the cell-division cycle. No case has been reported who had normal intelligence and normal cell division with typical clinical features of the RS. We report a case of a six-year-old male of clinical and radiologic findings of typical RS with normal cell division and normal intelligence.Although he showed growth retardation, his intelligence was normal. Van Den Berg and Francke later reported that 79 out of 100 cases of Roberts syndrome had premature cell separation (PCS). We think that this case may demonstrate severe expression of the Roberts syndrome even though PCS is not exhibited. The limb involvement of this case was symmetrical, and he showed phocomelia of upper limbs, equinus valgus deformity of ankle, aplasia of fibula, and shortness of fifth toes while his hands and feet were normal with 5 rays each. craniofacial abnormalities of this case were typical; he showed scaphocephaly, mild hypertelorism, mandibular hypoplasia, dysplastic helix of ear, narrowing of external auditory canal, and cleft palate with wide gap.This report supports the theory that normal intelligence can make social-personal adjustment possible even if all of the stigmata of Roberts syndrome is present.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
9/30. Teebi hypertelorism syndrome: additional cases.We report on two unrelated Brazilian boys who have craniofacial and digital anomalies resembling those reported with Teebi hypertelorism syndrome. Additional features such as cleft lip and palate, large uvula, atypical chin and abnormal scapulae were observed.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
10/30. choanal atresia and rare craniofacial clefts: report of three cases with a review of the literature.OBJECTIVE: This retrospective study reports three cases associating choanal atresia (CA) and rare craniofacial clefts (RCFCs) described in Tessier's classification. Although still discussed, these two malformations could derive from the same embryopathogenic context, with an anomaly of migration of the neural crest cells as a common factor. In two of the three cases presented, the RCFC was diagnosed during the neonatal period, and the third case (case 3) was diagnosed at the age of 12 years. The knowledge of this malformative association must permit the diagnosis of CA as early as the neonatal period or through the thorough and directed examination of the children as part of the follow-up.- - - - - - - - - - ranking = 5keywords = craniofacial (Clic here for more details about this article) |
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