Romberg's disease]

Romberg's disease is described in the light of two cases. By way of introduction, a survey of the now extant literature is given and the clinical picture is outlined. After that, the author deals with the case histories of his own patients.     

Hemifacial atrophy with bilateral short roots

We present a case in which the patient had both bilateral shortening of the roots, and hemifacial atrophy. As far as we know, this combination has not been described before.     

Hemifacial atrophy and temporomandibular joint pain-dysfunction syndrome

A case is described of a patient with progressive HA who presented because of left TMJ pain, jaw locking and ipsilateral masticatory muscle spasm. Several reports exist in the literature of masticatory muscle spasm associated with HA. A diagnosis of TMJPDS was made and an occlusal splint was provided which produced resolution of the TMJ pain and jaw locking and significantly reduced the masticatory muscle spasms.     

Review of the etiologic heterogeneity of the oculo-auriculo-vertebral spectrum (Hemifacial Microsomia)

Hemifacial microsomia is a congenital asymmetry of the lower face that may be associated with other cranial and extracranial anomalies. The variability of its severity, and wide range of anomalies that have been reported with it in some cases has resulted in these composite manifestations being given a number of names, including oculo-auriculo-vertebral spectrum (OAVS). Etiology is often stated to be a perturbation of embryonic blood flow in the developing region, although other factors may also play a role in some cases. Depending on what is considered to be minimum criteria for affected classification, what is often to be presumed to be a sporadic event in a family may be the more severe manifestation of a familial condition. Etiological factors are clearly heterogeneous, the investigation of which is confounded by not only the lack of a refined affected phenotype, but also the apparent influence of genetic factors in some instances that directly influence phenotype perhaps through alteration of mesodermal development, or indirectly through increased susceptibility to vascular disruption. Future studies likely to advance knowledge in this area will need to incorporate an analysis of who may be minimally affected in families, so that advances in genotyping will have greater power to distinguish genetic factors that may influence OVAS through interaction with environmental factors in particular families. The same genetic-environmental factors and or etiological mechanisms may then be investigated in apparently sporadic cases.     

Progressive Hemifacial Atrophy--case report

Progressive Hemifacial Atrophy, also known as Parry-Romberg Syndrome, is an uncommon degenerative and poorly understood condition. It is characterized by a slow and progressive atrophy affecting one side of the face. The incidence and the cause of this alteration is unknown. A cerebral disturbance of fat metabolism has been proposed as a primary cause. This can be the result of a trophic malformation of Cervical Sympathetic Nervous System. Possible factors that are involved in the pathogenesis include trauma, viral infections, heredity, endocrine disturbances and auto-immunity, among others. The most common complications that appear in association to this health disorder are: trigeminal neuritis, facial paresthesia, severe headache and epilepsy, being this last one the most frequent complication of the Central Nervous System. Characteristically, the atrophy progresses slowly for several years and, soon after, it become stable. Now, plastic surgery with graft of autogenous fat can be performed, after stabilization of the disease, to correct the deformity. Orthodontic treatment can help in the correction of any associated malformation. The objective of this work is, through the presentation of a clinical case, to accomplish a literature review concerning general characteristics, etiology, physiopathology, differential diagnosis and treatment of progressive hemifacial atrophy.     

Tongue atrophy in mixed connective tissue disease

A case is reported of tongue atrophy in a patient with mixed connective tissue disease (MCTD) and major myositic involvement. The case highlights oropharyngeal aspects of MCTD, including inability to wear dentures, dysarthria, and dysphagia. To our knowledge this is the first report of major tongue involvement in myositis as part of MCTD.     

Syndromes 9. Hemifacial microsomia

Hemifacial microsomia is also known under quite a number of synonyms. Pathognomonic for these usually sporadic cases are: marked three dimensional asymmetry of the mandible, the ear, the maxilla, the zygoma and the orbit. The more distal the structure, the more marked the asymmetry. Many other optional symptoms are described. The differential diagnosis is almost never a problem in this aspecific complex of symptoms. Surgical therapy asks for expert treatment. The treatment contains usually several operations of which one to three are really major. Even then, very good results are mainly obtained in the less pronounced cases only.     

Hemifacial microsomia. A review

Hemifacial microsomia is a congenital asymmetrical malformation of the skull and the face. As a congenital malformation of the face hemifacial microsomia is second in prevalence after cleft lip and palate disorders. Combinations and degrees of underdevelopment of craniofacial structures vary greatly. Therapy varies and depends on the different anomalies, but mostly contains orthodontic and surgical treatment to improve symmetry. It is generally accepted that children with asymmetrical facial malformations are best treated in multidisciplinary craniofacial centres.     

Systemic bone disease in patients with mandibular atrophy

Although the etiology of alveolar ridge resorption is unclear, the labile alveolar bone may be highly sensitive to changes in systemic bone mineral content. Ten patients presenting with severe mandibular atrophy were studied by photon absorption densitometry. Four patients exhibited a significant reduction in radial midshaft mineral content. All four had systemic bone disease revealed on undecalcified histological sections although serum biochemical studies were normal. Common factors were severe mandibular atrophy, decreased bone density, and systemic bone disease. Photon absorption densitometry is suggested as a screening mechanism for systemic bone disease in patients with severe mandibular atrophy.     

Hemifacial microsomia: a case report

Hemifacial microsomia is a congenital malformation in which there is a deficiency in the amount of hard and soft tissue on one side of the face. It is primarily a syndrome of the first branchial arch, involving underdevelopment of the temporomandibular joint, mandibular ramus, masticatory muscles and the ear. The affected ear may have an external soft-tissue malformation in addition to being lower set than on the contra lateral side. Hearing loss may result from underdevelopment of the osseous components of the auditory system and a diminished or absent external auditory meatus. Occasionally, second branchial arch defects involving the facial nerve and facial muscles coexist with Hemifacial microsomia. Radiographic examination in case of Hemifacial microsomia is of limited value because of superimposition of normal and abnormal bony structures. The skeletal and soft-tissue findings of a patient with Hemifacial microsomia who underwent three-dimensional computerized tomography is presented here to improve our knowledge and diagnostic skill of this uncommon entity.     

Computerized Imaging Techniques for Hemifacial Microsomia

Hemifacial microsomia is a congenital underdevelopment of one side of the face which affects multiple structures at one time. Evaluation includes orthodontic and surgical measurements for planned correction of facial asymmetry. Cephalometrics is the accepted method of evaluation, but is restricted to a two-dimensional representation. New imaging technology offers exciting new potential for evaluation of complex craniofacial and growth abnormalities.     

Hemifacial hypertrophy. Report of two cases

True hemihypertrophy involves not only the soft tissues of the body but the hard tissues as well. It may be classified as being total or partial. Total, if an entire side of the body is involved and partial, if only a portion. This report presents 2 cases of true hemifacial hypertrophy in an adult aged 29 years and a child of 12 years. Three-stage reconstruction is described in the older patient.     

Hemifacial hyperplasia: a case report.

Hemifacial hyperplasia is a developmental disorder characterized by a marked unilateral asymmetry. The etiology is unknown, although several factors have been described. It involves not only the hard tissues of the face, but the soft tissues as well. A case report of an adult woman with hemifacial hyperplasia highlighting the clinical significance is presented.     

Hemifacial lipodystrophy. Report of a case.

Lipodystrophy, which may be subdivided into a partial and a total form, is not a commonly reported disorder. One patient is presented in whom the lipodystrophy was not only confined to the face but even to one side. Progressive hemifacial atrophy was excluded by roentgencephalometric analysis and electromyography. It is suggested that the reported entity be considered as a separate group under the name of hemifacial lipodystrophy.     

Hemifacial microsomia and hypodontia: a case report

A 6-year-old girl with hemifacial microsomia was examined. Abnormalities found were: severely malformed pinna of the right car, right malar hypoplasia and unilateral mandibular hypoplasia. Dental examination revealce normal intraoral soft tissues with all deciduous teeth present. Radiographic examination disclosed that the maxillary and mandibular right and kleft second premolars were not devcloping. The mandibular ramus was short in leanth and the mandibular condyle had not developed on the right. The patient had no renal, cardiac or skeletal anomalies and her hearing was normal. No previous publications have been located whchreport the association of hypodontia and hemifacial microsamia.