Gorlin-Goltz syndrome

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene). Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by deoxyribo nucleic acid analysis. We report a case of a 9-year-old girl presenting with three major and one minor feature of Gorlin-Goltz syndrome. Radiologic findings of the syndrome are easily identifiable on Orthopantomogram, chest X-ray, and Computed tomography scans. These investigations prompt an early verification of the disease, which is very important to prevent recurrence and better survival rates from the coexistent diseases.     

Gorlin-Goltz syndrome: clinicopathologic aspects

Gorlin-Goltz syndrome, also known as nevoid basal cell carcicoma syndrome, comes into being due to a genetic alteration produced by a mutation in the "Patched" tumour suppressor gene, and it is inherited in a dominant autosomal way, though sporadic cases have been found. This syndrome shows a high penetrance and variable expressiveness. It is about a multisystemic process that is characterised by the presence of multiple pigmented basocellular carcinomas, keratocysts in the jaws, palmar and/or plantar pits and calcification of the falxcerebri. Together with these major features a great number of processes considered as minor features have also been described. The latter include numerous skeletical, dermatology related and neurological anomalies among others. In some occasions, the presence of very aggressive basocellular carcinomas has been described as well as other malignant neoplasias. Due to the importance of oral maxillofacial manifestations of this syndrome, it is fundamental to know its characteristic in order to make a diagnosis, an early preventive treatment and establish right genetic advice. In this work the main clinicopathologic and the therapeutic aspects related to the syndrome under consideration have been revised and updated.     

Radiological features of familial Gorlin-Goltz syndrome

Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost importance in reducing the severity of long term sequelae of this syndrome. This report presents a rare event of Gorlin-Goltz syndrome occurring in a 39-year-old male and his 8-year-old daughter. The clinical and investigative features of this familial disorder has been described in detail.     

Gorlin-Goltz: What's in a name?

This paper describes the clinical features of two very distinct syndromes with similar names: Gorlin-Goltz and Goltz-Gorlin Syndromes. A case report is presented that highlights the differences between these syndromes. To avoid errors in diagnosis because of the similarity in names, the authors caution that, based on additional information now available, the preferred names should be Focal Dermal Hypoplasia syndrome for Goltz-Gorlin syndrome and Nevoid Basal Cell Carcinoma syndrome for Gorlin-Goltz syndrome.     

Maxillonasal dysplasia (Binder's syndrome): a critical review and case study

Binder's syndrome (maxillonasal dysplasia) is a disorder of unknown etiology characterized by nasomaxillary hypoplasia and a 40-50% association of an underdeveloped frontal sinus and cervicospinal abnormalities. The midfacial retrusion is similar to that in chondrodysplasia punctata, resulting in confusion regarding diagnosis. This paper outlines the distinguishing features of Binder's syndrome, the treatment considerations, and presents 24 patients seen and treated. The facial and skeletal characteristics and developmental findings are emphasized to affirm the diagnosis of Binder's syndrome. A familial finding of Binder's features in five patients raises the possibility of a genetic mechanism, a previously undisclosed finding.     

Mobius syndrome: a dental hygiene case study and review of the literature

Mobius syndrome, a rare, non-progressive, congenital neuromuscular disorder, presents with multiple dental and medical complications. Signs and symptoms of this condition include: congenital, bilateral or unilateral palsies of the facial and abducens cranial nerves (cardinal sign), and a broad scope of multisystem abnormalities, which may or may not include the following: opthalmoplegia externa, lingual palsy, clubfoot, branchial malformation, ptosis, mental retardation, and pectoralis muscle defect. From a dental standpoint, a number of anomalies may manifest, including: multiple congenitally missing teeth (both deciduous and permanent), micrognathia, paralysis and hypoplasia of the tongue, absence of facial expression and weakness of the palate. This article reviews the case study of a 40-year-old male client with Mobius syndrome, dental hygiene diagnosis (DHDx) and intervention, and the dental hygienists' responsibility and role in care.     

Dental implants in patients with Ehlers-Danlos syndrome: a case series study

Ehlers-Danlos syndrome (EDS) encompasses six types of hereditary connective tissue disorders, with skin hyperextensibility, joint hypermobility, and connective tissue fragility as the main findings. Oral health is also affected, sometimes including periodontitis and tooth loss. This is the first report on dental implant treatment for patients with hypermobility or classic EDS. Five female patients aged 19 to 68 years who tolerated treatment under local anesthesia and did not require bone augmentation were enrolled in the study and received 16 implants. They were observed for 2 to 12 years. No implants were lost, bone loss was minimal, and all patients were pleased with the treatment outcomes.     

Noonan syndrome: a case report

Noonan syndrome is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects and skeletal malformations. It may be sporadic or inherited as an autosomal dominant or recessive trait and occurs, one in 1,000-2,500 children. This is a case report of a 13 year-old girl who was referred by a general dental practitioner to a pediatric dentist for management. Full mouth dental rehabilitation was done and the child was brought to a dental institution for correction of orofacial and occlusal defects. Multidisciplinary treatment is the key to success in managing children with Noonan syndrome and the pediatric dentists play an important position to lead the health team.     

Stylohyoid syndrome: a case report

Elongation of the styloid process and/or ossification of the stylohyoid ligament can be associated with cervical pharyngeal pain, which may be detected both clinically and radiographically. Eagle's syndrome, stylohyoid syndrome, and pseudostylohyoid syndrome should be considered in the differential diagnosis.     

Kabuki syndrome: a case report

Abstract

This article reports the case of an 8-year-old female with Kabuki syndrome and the oral/dental implications of this syndrome, namely hypodontia with interdental spacing, abnormal tooth morphology, malocclusion and a defect in the anterior midline of the palate. The oral findings will aid the clinician in diagnosing this syndrome, which was once thought to be seen exclusively in the Japanese population.     

Gardner's syndrome: a case report

Gardner's syndrome, with characteristic dental abnormalities and osteomas involving the jaws, is described in an adolescent male. The sinister aspect of the syndrome relates to the malignant potential of intestinal polyps and therefore the need for early diagnosis and prophylactic colectomy. The dentist may be the first health professional to have an opportunity to make an early diagnosis and referral of a patient with Gardner's syndrome, and should therefore be aware of the features of the syndrome that affect the teeth and jaws.     

Laband syndrome: a case report

A case of Laband syndrome in an 8-yr-old girl is presented. The case is sporadic. The patient manifests enlargement of the soft tissue of the hard palate and the gingiva, which partly or completely covers the crowns of the teeth and macroglossia. The cartilagenous part of the nose and the ears is large and soft. She has synophrys and thick, straight hair. The nails of the fingers and toes are dysplastic. The girl exhibits no other abnormality, except an IQ of 61.     

Gorlin syndrome: a case report

Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. It is characterized mainly by Basal cell carcinomas, Odontogenic keratocysts and skeletal anomalies. However, medical literature documents both common and lesser known manifestations of the disorder involving the skin, central nervous system, skeletal system etc. Diagnosis of the syndrome in childhood is basically through oral abnormalities. A case of Gorlin syndrome has been reported here, with review of literature.     

Otodental syndrome: a case report

The purpose of this article is to describe the clinical features of otodental syndrome. A 9-year-old boy presented with dental abnormalities that have been described for otodental syndrome. The characteristic findings included large bulbous crowns in canine and molar teeth of both dentitions, deep vertical enamel fissures separating the cusps of affected molars, and hypoplastic yellow areas on the labial surfaces of the canines. Radiographs revealed the abnormal molars to possibly be the product of fusion of multiple tooth buds. The pulp chambers appeared to be duplicated, and possibly a supernumerary tooth or complex odontoma is present.     

Gardner's syndrome: a case report

Gardner's syndrome is characterised by polyposis coli associated with multiple hard and soft tissue tumours including osteoma and odontoma. The major significance of the condition lies in the gastrointestinal polyposis which usually undergoes malignant change by the fourth decade. Extra-intestinal components may be apparent before those in the bowel, and their early detection may lead to appropriate evaluation and life saving treatment. A case is reported to demonstrate how important it is for general dental practitioners to be aware of the clinical and radiological characteristics of Gardner's syndrome.