1/11. A case with Weaver syndrome operated for congenital cardiac defect.An 11-month-old Turkish female infant with Weaver syndrome together with atrial septal defect and patent ductus arteriosus which was operated successfully is reported. Weaver syndrome is a very rare disorder of unknown etiology characterized by accelerated growth of prenatal onset, advanced osseous maturation, special craniofacial features, umbilical hernia, and hoarse low-pitched cry. Congenital cardiac defect is not a usual finding. The presented case is the first reported child with Weaver syndrome in the literature operated for a congenital cardiac defect.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
2/11. Multiple meningiomas, craniofacial hyperostosis and retinal abnormalities in proteus syndrome.Because clinical evidence suggests that proteus syndrome may be caused by a somatic mutation during early development, resulting in mosaicism, the possible types of abnormalities and their clinical distributions are highly variable. Here, we report on an unusual patient with proteus syndrome. Manifestations included multiple meningiomas, polymicrogyria, and periventricular heterotopias. Both eyes had epibulbar cystic lesions. The retina showed diffuse disorganization with nodular gliosis, retinal pigmentary abnormalities, chronic papilledema, and optic atrophy. Other abnormalities included progressive cranial, mandibular, maxillary, and auditory canal hyperostoses, epidermal nevi, and mental deficiency. The limbs were proportionate, and the hands and feet were normal.- - - - - - - - - - ranking = 4keywords = craniofacial (Clic here for more details about this article) |
3/11. Autosomal dominant craniometaphyseal dysplasia with atypical features.Craniometaphyseal dysplasia (CMD) is a rare genetic disorder of bone modelling characterised by hyperostosis and sclerosis of the craniofacial bones, and abnormal modelling of the metaphyses. Clinically, autosomal dominant (AD) CMD is characterised by facial distortion and cranial-nerve compression. The goals of surgical treatment for AD CMD are cosmetic recontouring of the sclerotic craniofacial bones, correction of nasal obstruction and correction or prevention of neurological manifestations. We describe the successful correction of AD CMD craniofacial manifestations in an individual with atypical findings, and outline an approach for correcting the craniofacial deformities associated with this rare disorder.- - - - - - - - - - ranking = 4keywords = craniofacial (Clic here for more details about this article) |
4/11. situs inversus totalis with accompanying craniodiaphysial dysplasia: a new syndrome?A 20-year-old man with craniofacial anomalies of craniodiaphysial dysplasia (CDD), facial paralysis, mental retardation, and situs inversus totalis is described. Similar features except situs inversus totalis are also present in two of his sisters. The authors believe this to be the first reported case of CDD with accompanying situs inversus totalis.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
5/11. Craniometaphyseal dysplasia associated with obstructive sleep apnoea syndrome.Craniometaphyseal dysplasia (CMD) is a genetic craniotubular bone disorder characterized by early progressive hyperostosis and sclerosis of the craniofacial bones, and abnormal modelling of the metaphyses of the tubular bones. We present the case of a patient with a confirmed history of the autosomal dominant form of CMD, associated with symptoms of obstructive sleep apnoea syndrome. Examination and imaging studies revealed several unusual features in addition to the common findings of CMD such as: bimaxillary retrusion with hyperostosis of the mental area, severe notching of the external occipital protuberance, huge occipital horn, decreased angle of the mandible with notching of the body and thickening of the areas of muscle attachment, and macrodontia. The literature and differential diagnoses are reviewed.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
6/11. Craniofacial hyperostoses in proteus syndrome -- a case report.OBJECTIVE: Description of a patient with a rare syndrome leading to the partial overgrowth of craniofacial bones. CASE REPORT: In a 17-year-old female patient with severe hyperostoses of the craniofacial bones asymmetric overgrowth of the right upper and left lower limbs, linear hyperpigmentation of the right arm and a history of regional lipomatosis were found. These manifestations were suggestive of proteus syndrome. The management of the craniofacial involvement is described and a literature overview presented. CONCLUSION: proteus syndrome is a rare overgrowth syndrome probably related to a somatic mutation that involves craniofacial structures in about 30% of patients. early diagnosis is required for adequate interdisciplinary treatment.- - - - - - - - - - ranking = 4keywords = craniofacial (Clic here for more details about this article) |
7/11. Craniometaphyseal dysplasia.Craniometaphyseal dysplasia is a rare bone disorder of unknown etiology characterized by overgrowth of the skull base or craniofacial bones and abnormal remodeling of the metaphyses of the long bones. We present a sporadic case of craniometaphyseal dysplasia associated with facial paralysis observed in a 4-year-old female, which emphasizes the importance of the early detection of accompanying lesions.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
8/11. Craniofacial characteristics of proteus syndrome: two modes of abnormal growth.The dysmorphic growth patterns of the craniofacial skeleton are summarized in five patients with the proteus syndrome. Two different modes of abnormal growth are present. One mode involves focal overgrowth of membrane bones, producing multiple hyperostoses which result in progressive craniofacial disfigurement and asymmetry. The second mode involves overgrowth of cartilage in the condyle, resulting in dentofacial asymmetry. The phenotype of the craniofacial skeleton results from both processes. In terms of appearance, the mode involving hyperostosis seems more dramatic in most cases than the mode involving cartilage.- - - - - - - - - - ranking = 3keywords = craniofacial (Clic here for more details about this article) |
9/11. Craniofacial neurosurgical approach for extensive hyperostotic meningioma.We present a patient with a craniofacial meningioma that had been considered inoperable for 8 years but has now been successfully treated using the combined neurosurgical and craniomaxillofacial approach. The tumor extensively involved the meninges, skull, face, left orbit, and maxilla. Vision and mild proptosis of the left eye had worsened over the last several years. Computed tomography and magnetic resonance imaging scans revealed an extensive intraosseous meningioma with intracranial and extracranial extension. An angiogram revealed an intensely vascularized mass supplied by a markedly enlarged ophthalmic artery. The tumor was approached through a bicoronal incision. The meningioma that extended into the dura was removed entirely from the brain. The left orbital roof and the lateral and medial walls were resected along with the meningioma, which extended through the orbit into the maxilla. The defect in the dura was closed with a pericranial flap. Split parietal bone and lyophilized cartilage were used for reconstruction of the cranial and orbital defects. Three and a half months after the initial surgery, further reconstruction was performed using calvarial, rib, and iliac bone and lyophilized cartilage. A methylmethacrylate implant was inserted but then removed due to chronic wound drainage. It was substituted with demineralized perforated bone implants from Pacific Coast Tissue Bank. Seventeen months after the initial surgery, there was no evidence of the tumor.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
10/11. proteus syndrome: clinical evidence for somatic mosaicism and selective review.I report 2 unusual cases of proteus syndrome that support the concept of somatic mosaicism. In one patient, a huge connective tissue nevus covered the chest and abdomen and hyperostoses of the calvaria were observed. In the other patient, linear verrucous epidermal nevi, epibulbar dermoids, and hyperostoses were found. No enlargement of the limbs or digits occurred and the plantar surfaces of the feet were normal. Selective aspects of proteus syndrome not previously reviewed are also presented including: uncommon neoplasms; pulmonary and renal abnormalities; brain malformations; facial phenotype associated with seizures and severe mental deficiency; and types of abnormal growth in the craniofacial skeleton.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
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