Apert syndrome: a case report with discussion of craniofacial features.

Apert syndrome is a rare congenital anomaly characterized by acrocephaly, syndactyly, and abnormalities of other organs. It has characteristic features in the orofacial region, affecting the eyes, palate, middle third of face, and uvula. In this case report, the features of Apert syndrome, particularly in relation to the orofacial region, are discussed.     

Axenfeld-Rieger syndrome: report on dental and craniofacial findings

Axenfeld-Rieger syndrome is a rare autosomal dominant disorder characterized by various ocular and extraocular malformations. Dental abnormalities are considered as definitive features for the diagnosis and differentiation of Rieger syndrome from other anterior chamber of the eye malformations. A case of Rieger syndrome with distinct dental and craniofacial anomalies is described. Significant cranio-dento-facial findings that have been observed are, teeth with short and dilacerated roots, hyperplastic frenums and underdeveloped maxilla. There was an anterior crossbite, bilateral posterior open-bite and moderate to severe anterior crowding.     

Dental and craniofacial features of Aarskog syndrome: report of a case and review of literature

Aarskog syndrome is a rare syndrome with a typical triad of facial, digital and genital characteristics. The characteristic cephalometric finding in this patient was the unusually large upward slant of SN plane and a steep Ba-N plane. Though the patient presented with a class I skeletal pattern, both the maxilla and mandible were hypoplastic and retruded with respect to the cranial base. Other characteristic features regarding the mandibular morphology were a large FMA (37 degrees) and Sn-GoGn (44 degrees) angles, a large gonial angle (138 degrees), an increase in total anterior facial and lower anterior facial height.     

Chronic craniofacial dematiaceous fungal infection: A case report

Curvularia is a saprobic dematiaceous mold that has been associated with a wide spectrum of human infection. In non‐immunosuppressed patients, infections frequently involve the paranasal sinus, skin, and soft tissue, whereas systemic dissemination and endocarditis are extremely rare. The optimal antifungal therapy for Curvularia infection is not known, and responses to treatment with amphotericin B, miconazole, ketoconazole, terbinafine, and itraconazole have been reported. We describe a patient with an invasive dematiaceous fungal sinusitis who was immunocompetent and was infected with Curvularia. The patient was successfully treated with oral itraconazole by otolaryngology and the infectious disease service.     

Oral and craniofacial manifestations in a Hunter syndrome patient with hematopoietic stem cell transplantation: A case report

We described herein the oral and craniofacial features of a 7‐year‐old boy, diagnosed in utero with mucopolysaccharidosis II (MPS II), who was treated with hematopoietic stem cell transplantation (HSCT) at 70 days of age. The main oral clinical findings were the following: macroglossia, posterior cross‐bite, crowding, pointed cuspid teeth, delayed tooth eruption, retained primary teeth, and enamel hypoplasia. The image examination showed: retention eruption, posterior primary teeth with short roots, absence of some permanent teeth, and stretching of the stylohyoid processes bilaterally. This patient showed the importance of early diagnosis and HSCT therapy in attenuating the clinical and radiographic oral and craniofacial manifestations of the MPS II patient.     

A longitudinal evaluation of craniofacial growth in a patient with Kabuki make-up syndrome: a case report

The purpose of this investigation was to evaluate the craniofacial growth of a patient diagnosed with Kabuki make-up syndrome (KMS). Craniofacial growth was assessed by analysing lateral cephalometric radiographs with an interval of 12-15 months. They were taken from 6 years 9 months to 14 years 2 months. Angular and linear measurement analyses of the craniofacial complex showed a hypoplastic maxilla and a constricted maxillary basal arch width. The mandibular size was relatively large and had started to increase from 13 years 4 months. This resulted in a prognathic face caused by forward growth of the mandible and insufficient growth of the maxilla. The skeletal pattern was Class III. Open bite morphology with a steep mandibular plane (SN-MP), a relatively short ramus, and a large gonial angle were also observed. In this subject, the facial dysmorphism found in the maxilla and mandible may have been influenced by several factors. Connective tissue disorder, macroglossia, lower tongue posture, and tongue thrust swallowing have been identified as possible aetiological factors that may determine dysmorphism in the craniofacial complex in this KMS patient.     

Tooth eruption and craniofacial development in congenital hypothyroidism: report of case

The long-term effects of severe hypothyroidism on craniofacial growth and dental development are illustrated in this case. It is apparent that given a favorable diet, the primary dentition can persist for a long period (early childhood to at least the age of 19) without the development of dental caries. It is also clear that the dental structures can still respond to the effects of L-thyroxine at a relatively late age, with the exfoliation of primary dentition and eruption of the secondary dentition. Impacted mandibular second molars appear to be rare. The lack of proper growth of the mandible and failure of normal resorption of the internal aspect of the ramus associated with deposition of bone on the external aspect with the development of normal-size teeth, resulted in a lack of space for the eruption of mandibular second molars. The impaction of the mandibular second molars in this patient seems to be caused by a dissociation of ramus growth and dental development, resulting in insufficient space for proper eruption of these teeth.     

Rubinstein-Taybi syndrome: case report

A patient with Rubinstein-Taybi syndrome is presented with the characteristic clinical features including small and short stature, severe mental retardation, and small maxilla with a dental malocclusion. Treatment for this patient was accomplished utilizing a general anesthetic. These special patients who lack the ability to accept dental treatment in the normal situation require extensive and comprehensive dental treatment compared with nonhandicapped patients.     

Partial craniofacial duplication: A review of the literature and case report

Diprosopus (Greek; di-, “two” + prosopon, “face”), or craniofacial duplication, is a rare craniofacial anomaly referring to the complete duplication of facial structures. Partial craniofacial duplication describes a broad spectrum of congenital anomalies, including duplications of the oral cavity. This paper describes a 15 month-old female with a duplicated oral cavity, mandible, and maxilla. A Tessier type 7 cleft, midline meningocele, and duplicated hypophysis were also present. The preoperative evaluation, surgical approach, postoperative results, and a review of the literature are presented. The surgical approach was designed to preserve facial nerve innervation to the reconstructed cheek and mouth. The duplicated mandible and maxilla were excised and the remaining left maxilla was bone grafted. Soft tissue repair included closure of the Tessier type VII cleft. Craniofacial duplication remains a rare entity that is more common in females. The pathophysiology remains incompletely characterized, but is postulated to be due to duplication of the notochord, as well as duplication of mandibular growth centres. While diprosopus is a severe deformity often associated with anencephaly, patients with partial duplication typically benefit from surgical treatment. Managing craniofacial duplication requires a detailed preoperative evaluation as well as a comprehensive, staged treatment plan. Long-term follow up is needed appropriately to address ongoing craniofacial deformity.     

Combination syndrome: classification and case report

Combination syndrome (CS) is a dental condition that is commonly seen in patients with a completely edentulous maxilla and partially edentulous mandible with preserved anterior teeth. This syndrome consists of severe anterior maxillary resorption combined with hypertrophic and atrophic changes in different quadrants of maxilla and mandible. This makes it a challenging condition in dentistry that requires significant experience along with advanced restorative and surgical skills. The causes of maxillary bone resorption and ways to correct it are discussed in this article. Conventional treatment with full upper and partial lower dentures for the CS patients is not always adequate or satisfying for patients and it often requires multiple remakes due to continuing bone resorption. Dental implant rehabilitation challenges conventional treatment with bone-anchoring techniques to provide improved retention and stability for implant-retained and supported prostheses. This article presents a successful implant treatment of the partially edentulous maxilla in CS patient. The author proposes a new classification of the combination syndrome that includes a multitude of CS cases with partial and complete maxillary and mandibular edentulism. The necessity of a multi-disciplinary approach for early prevention and treatment of this complex condition is emphasized.     

Shprintzen-Goldberg syndrome: case report.

OBJECTIVE: The Shprintzen-Goldberg syndrome is an extremely rare syndrome with a characteristic face. This is one of a group of disorders characterized by craniosynostosis and marfanoid features. The aim of this study was to present a new sporadic case of the syndrome and describe in detail the findings at the maxillofacial region.     

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.     

Lowe syndrome: case report.

Lowe syndrome is a genetic multi-system disorder affecting the central nervous system, lens and kidney. In this report, constricted palate, multiple eruption cysts and hematomas as the oral findings of a child diagnosed with Lowe syndrome is presented.     

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.