Asymmetric, disproportionate craniofacial hyperostoses of mosaic pattern in a patient not meeting Proteus syndrome criteria

A 34-year-old patient with asymmetric hyperostosis of the craniofacial skeleton much more pronounced on the right side is presented. A long-term follow-up of 16 years showed progression of overgrowth even after skeletal maturity and despite repeated surgical corrections focusing on regional reduction of the hyperostoses. Clinical situation during infancy, adolescence, and adulthood is documented. Although the craniofacial hyperostosis in the patient was indicative of the Proteus syndrome, the applicable criteria were not met. Proportionate mild hemihypertrophia/hyperplasia of the patient's right extremities also exclude an oligosymptomatic variant of the Proteus syndrome limited to the skull. Both surgical strategies and difficulty of a diagnostic classification are discussed.     

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.     

Craniofacial and dental manifestations of Proteus syndrome: a case report.

The Proteus syndrome is a rare congenital hamartomatous condition that is characterized by a wide range of malformations, sometimes involving the face. Common manifestations include partial gigantism, congenital lipomas, and plantar hyperplasia. In this report we describe the craniofacial clinicopathological development in a girl with Proteus syndrome from age 6 to 20 years. The patient had pronounced hemifacial hypertrophy, exostoses in the left parietal region, and enlargement of the inferior alveolar nerve and mandibular canal in the affected region. The dental development of the affected left mandible and maxilla was characterized by extremely premature development and eruption of the primary and permanent teeth and by pronounced idiopathic root resorptions. The multidisciplinary management of the patient and the treatment outcome is reported. A review of the Proteus patients in the literature who exhibited manifestation in the craniofacial region is presented.     

Maxillofacial manifestations of Proteus syndrome: a systematic review with a case report

Oral Radiology - Proteus syndrome (PS) is an extremely rare disorder with asymmetric and disproportionate bone overgrowth. Craniofacial abnormalities in PS are less frequent than skeletal...     

Giant chondrolipoma of the tongue in a 14-year-old child with mandibular hypertrophy. Isolated lesion or regional overgrowth syndrome

Chondrolipoma is a rare condition; especially in the oral cavity. The authors described a giant chondrolipoma of the tongue, associated with mandibular and lower lip overgrowth, in a 14-year-old boy. After tumour excision, histopathological examination showed mature cartilage within lobules of mature adipocytes. This is the first case of giant chondrolipoma associated with facial overgrowth. The aetiology and the association with a localized Proteus syndrome are discussed.     

Proteus syndrome: A case report of a hamartomatous syndrome with severe mandibular hemihypertrophy

Proteus syndrome is a rare congenital hamartomatous malformation that is characterized by a wide range of deformities, including craniofacial deformities. Skin and skeletal developmental malformations are common and may assume tremendous proportions. The syndrome is often mistaken for other, more commonly recognized conditions, including neurofibromatosis. The soft-tissue masses in Proteus syndrome are not nerve tumors but are usually hamartomatous proliferations. The case report describes its varied manifestations, which include significant cranifoacial dysmorphism, and discusses the differential diagnosis and management.     

A case of isolated craniofacial fibrous dysplasia – Radiologist's perspective

Fibrous dysplasia is a disease characterized by replacement of bone by fibro osseous tissue. FD has four different disease patterns. They are monostotic, polyostotic and McCune–Albright syndrome. Craniofacial pattern of disease occurs in 10–25% of patients with monostotic form and in 50% with polyostotic form. It also occurs as isolated craniofacial form. In isolated variety no extracranial lesions are present. Radiographic diagnosis plays an important role in diagnosis, classification and assessing prognosis of fibrous dysplasia. In this paper we report a case of isolated craniofacial type of fibrous dysplasia in a young female patient involving the maxilla and skull bones with a complete radiographic CT assessment of the extent of the lesion. Temporal bone involvement and bilateral lesion in certain cranial bones are the rare findings noted in this case.     

Agnathia and associated malformations: a case report

A case of a rare first branchial arch anomaly with severe hypoplasia of the mandible and fusion between the mandible and adjacent bones is presented. The patient also had intracranial, cardiac, and acral deformities. The craniofacial malformations may reflect incomplete separation of the first branchial arch into its maxillary and mandibular processes. The association between the craniofacial and other corporal anomalies is unknown.     

Oro-dental and craniofacial anomalies in LEOPARD syndrome

'LEOPARD syndrome' is a syndrome affecting many systems or organs. The main anomalies are summarized in the acronym LEOPARD in which each letter corresponds to the damage of a given organ. In the presented case, there are oro-dental and craniofacial anomalies. The relationship between the LEOPARD syndrome and the given anomalies and the possibilities of the management and the follow-up of the diseased are studied. The clinical case presented is a 4-year-old boy with LEOPARD syndrome showing retardation of dental development, delayed development and possible agenesis of permanent teeth, and craniofacial anomalies (osseous hypodevelopment). The bibliographical study shows that LEOPARD syndrome is due to damage of the neural crest cells. Thus, the dental and craniofacial anomalies arise since neural crest cells participate in the formation of the teeth and some craniofacial bones. Therefore, dental and craniofacial anomalies might be expected in some cases of the disease. The therapeutic management of the lesions, and the follow-up of the patient would be done by a multidisciplinary team.     

Osteoglophonic dysplasia: dental and orthodontic implications

AIMS AND OBJECTIVES: Documentation of dental and orthodontic implications of osteoglophonic dysplasia (OGD). SETTINGS AND PARTICIPANTS: Case report describing oral and dental manifestations of a female with OGD, aged 39 years, who was first documented three decades ago. RESULTS: This rare genetic disorder manifests with gross stunting of stature, associated with severe craniofacial malformation and multiple unerupted teeth. Radiographically, multiple lucent lesions were present in the tubular bones and mandible as well as several impacted teeth. CONCLUSION: We concluded that prosthetic dental replacement in this patient would be difficult because of the distorted jaw relationship and large alveolar ridges. Equally, craniofacial reconstruction might be compromised by obstruction of the nasal airways, difficulty in intubation and postoperative respiratory problems.     

Hajdu-Cheney syndrome (acro-osteolysis): a case report of dental interest

Hajdu-Cheney syndrome (acro-osteolysis) is a rare disorder of bone metabolism characterized by progressive lytic lesions in a number of bones. Constant features of this condition include an osteoporotic skeleton, acro-osteolysis, and a shortened lower third of face. The purpose of this report was to focus on the craniofacial and oral manifestations of the disorder in a 9-year-old boy.     

Congenital hemifacial hyperplasia

A case of true hemifacial hyperplasia is described. This is an unusual condition which produces facial asymmetry by a marked, unilateral, localised overgrowth of all the tissues in the affected area, including, the facial soft tissues, bones and teeth. The patient is an eight-year-old Caucasian girl with congenital hemihyperplasia of the right side of her face.     

Craniofacial growth in Sotos syndrome

Sotos syndrome is a congenital genetic disorder characterized by overgrowth starting before birth, specific facial manifestations, advanced bone age, and developmental impairment. The characteristics of craniofacial development in Sotos syndrome have yet to be clarified. Eight patients with Sotos syndrome were studied and two types of mutations and a submicroscopic deletion within the NSD1 gene were verified using genetic analysis. Regarding craniofacial growth, the length between the nasion and the sella was longer than the norm as shown by multi-detector row computed tomography cephalometric analysis. The areas of the cranium and maxilla of patients with Sotos syndrome were larger than those of the control group, as measured on cephalometric images. The area of the sella turcica in patients with Sotos syndrome was also larger than that in the controls without significant difference and the morphology of the sella turcica was similar to that of the control. The morphology of the chin in patients with Sotos syndrome showed more protrusion than that in the controls. Early formation of teeth was found in the upper and lower first molars of patients with Sotos syndrome. Eight patients with Sotos syndrome, 6–13 years of age, had craniofacial characteristics of cranium and maxilla overgrowth, but no significant difference was observed in the mandible size between patients with Sotos syndrome and control subjects. No sella turcica bridging or early root formation of the first molars was seen in patients with Sotos syndrome.     

Psammomatoid juvenile ossifying fibroma: an analysis of 2 cases affecting the mandible with review of the literature

Juvenile ossifying fibroma (JOF) is a rare fibro-osseous neoplasm, defined as a variant of the ossifying fibroma that arises within the craniofacial bones. Two subgroups, juvenile psammomatoid ossifying fibroma (PsJOF) and juvenile trabecular ossifying fibroma, have been delineated by their histology. PsJOF occurs predominantly in the sinonasal and orbital bones. This work reports on 2 cases of extensive PsJOF in the body of the right mandible as well as reviews the literature regarding the radiographic and histologic features, treatment, and prognosis of PsJOF of the jaws.     

The Rieger syndrome: orofacial manifestations. Case report of a rare condition.

Rieger syndrome is a rare, autosomal dominant disorder due to developmental arrest of tissues derived from neural crest ectoderm in the third trimester. It is characterized by abnormalities of the anterior chamber of the eye coincident with dental and craniofacial anomalies. Early recognition of dental anomalies aids in detection of the syndrome and prevents progressive loss of vision. This case report discusses the ocular, dental, and craniofacial findings and the overall management of the patient.     

Fibrous dysplasia of the jaws: Integrating molecular pathogenesis with clinical,radiological, and histopathological features

Fibrous dysplasia is a non‐neoplastic developmental process that affects the craniofacial bones, characterized by painless enlargement as a result of bone substitution by abnormal fibrous tissue. Postzygotic somatic activating mutations in the GNAS1 gene cause fibrous dysplasia and have been extensively investigated, as well as being helpful in the differential diagnosis of the disease. Fibrous dysplasia may involve one (monostotic) or multiple bones (polyostotic), sporadically or in association with McCune‐Albright syndrome, Jeffe‐Lichenstein syndrome, or Mazabreud syndrome. This review summarizes the current knowledge on fibrous dysplasia, emphasizing the value of integrating the understanding of its molecular pathogenesis with the clinical, radiological, and histopathological features. In addition, we address important aspects related to the differential diagnosis and patient management.     

Ellis-van Creveld syndrome: craniofacial morphology and multidisciplinary treatment.

OBJECTIVE: The craniofacial morphology and multidisciplinary treatment of a patient with Ellis-van Creveld Syndrome are presented. PATIENT: The patient presented is female. Her treatment began at the age of 10 years 6 months. She exhibited small stature with acromelic shortening of the extremities, postaxial syndactyly, and dysplastic nails. In the oral region, hyperplastic frena, absent anterior teeth, and small barrel-shaped teeth were noted. SETTING AND INTERVENTION: The patient was treated at the University Hospital, Faculty of Dentistry, of the Tokyo Medical and Dental University. The treatment was divided into three stages: growth observation during which the patient wore acrylic plates with artificial anterior teeth; surgical-orthodontic treatment with sagittal split ramus osteotomy; and prosthodontic treatment with removable partial dentures. MAIN OUTCOME MEASURES: Cephalometric analyses were performed to evaluate the changes in craniofacial morphology with growth during treatment. RESULTS: Characteristic craniofacial morphology included a small posterior cranial base, small maxilla, and a large mandible with an increased gonial angle. Maxillo-mandibular relation was skeletal class III, and skeletal open bite was found. The skeletal class III relationship was progressive with growth. The patient was satisfied by the results of the multidisciplinary treatment. CONCLUSION: The craniofacial morphology of the patient demonstrated disturbed growth of the cartilage bones. An acceptable result was obtained through combined surgical-orthodontic-prosthodontic treatment.     

Biomechanical three-dimensional finite-element analysis of maxillary prostheses with implants. Design of number and position of implants for maxillary prostheses after hemimaxillectomy

The present study analyzed stress distributions in craniofacial structures around implant-supported maxillary prostheses. Using post-hemimaxillectomy computed tomography (CT) of a patient, the authors constructed a three-dimensional (3D) solid model using Digital Imaging and Communications in Medicine data (DICOM data) for maxillofacial and cranial bones. The effects of different prosthesis designs on stress distributions in craniofacial bones and osseous tissues around the implants were biomechanically investigated using 3D finite-element analysis. Maxillary prostheses were designed with 2 implants in the zygoma on the affected side and 2–3 implants in the maxillary alveolar bone on the unaffected side, without using a cantilever. Zygomatic implants provided suitable stress dispersal to the zygomatic and craniofacial bones on the affected side. This information is useful for designing maxillary prostheses.     

Late intracranial haemorrhage and subsequent carotid-cavernous sinus fistula after fracture of the facial bones

Carotid-cavernous sinus fistula is an arteriovenous fistula between the internal carotid artery and the cavernous sinus, and is usually caused by a traumatic tear or a ruptured aneurysm of the cavernous segment of the internal carotid artery. We describe a rare case of delayed intracranial haemorrhage and carotid-cavernous sinus fistula that presented 3 weeks after fracture of the facial bones. The patient developed orbital apex syndrome including ptosis of upper eyelid, pulsatile exophthalmos, chemosis, loss of ocular motility, monocular blindness on the right, and numbness of the right infraorbital region. After transcatheter intra-arterial embolisation, the ptosis and chemosis improved.     

Extensive facial clefting in a patient with Goltz syndrome: multidisciplinary treatment of a previously unreported association.

OBJECTIVE: Goltz syndrome is a rare, X-linked dominant, multisystem disorder found almost exclusively in female patients. Although the cutaneous features predominate in most reports, characteristic abnormalities are also frequently present in the musculoskeletal system and facial region. We report a female infant born with a severe form of Goltz syndrome that included an extremely wide facial cleft, an abnormality not previously reported in a patient with this disorder. Her management demonstrates the advantages of a multidisciplinary approach to effectively care for patients with severe craniofacial abnormalities.