Solitary median maxillary central incisor in association with Goldenhar's syndrome: a case report

Goldenhar's syndrome is a rare disorder characterized by several anomalies that include dermal epibulbar cysts, auricular appendices and malformations and vertebral anomalies. In this article, the authors report a case of Goldenhar's syndrome in a 10-year-old child who presented with the classical signs of this condition and a solitary median maxillary central incisor (SMMCI).     

Focal dermal hypoplasia. Goltz syndrome. A case report

Focal dermal hypoplasia (Goltz syndrome) is a rare syndrome comprising developmental anomalies of tissues and organs of mesoectodermal origin. As a result, there are abnormalities of the eyes, skin, oral structures, musculoskeletal system and central nervous system. This article describes the case of a four-year-old female with focal dermal hypoplasia (FDH) who displayed many of the oral features associated with this syndrome. Her condition was complicated by recurrent episodes of facial cellulitis in relation to skin lesions of the face. This is an unusually severe case of FDH with previously unreported association of cutaneous anomalies and facial cellulitis.     

ARTICLE: Axenfeld–Rieger Syndrome (ARS): A review and case report

Axenfeld–Rieger syndrome (ARS) is a rare, autosomal dominant condition characterized by ocular, craniofacial, dental, and periumbilical abnormalities. Relatively little information exists on this syndrome within the dental literature despite the fact that midface hypoplasia and maxillary hypodontia are classical presenting features of this syndrome. This is a case report of a 7‐year‐old Caucasian female with ARS who presented with significant ocular and dental anomalies. She was also found to have osteopenia. Her dental condition is described, her immediate treatment is shown, and her long‐term treatment needs are discussed.     

Dentofacial characteristics in a child with Meier–Gorlin syndrome: A rare case report

Meier–Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of microtia, absent or small patellae and short stature. The other associated clinical features may include developmental delay, congenital pulmonary emphysema, gastro-esophageal reflux, urogenital anomalies, such as cryptorchidism and feeding problems. The facial characteristics during childhood are typical, comprising of a small mouth with full lips and micrognathia/retrognathia. The condition is rare affecting about one to nine individuals per million. Mutation in the genes of pre-replication complex involved in DNA-replication is detected in the majority of patients. This impedes the cellular proliferation resulting in a reduction of total cell number and thereby retardation of overall growth. This case report describe the typical dentofacial characteristics in a 5?years old child affected with Meier-Gorlin syndrome along with other associated anomalies and a multidisciplinary approach for their management.     

Multiple Radiopaque Mandibular Lesions in a Patient with Apert Syndrome

Introduction

Apert syndrome (acrocephalosyndactyly) is a rare congenital malformation characterized by craniosynostosis, craniofacial anomalies, and symmetric syndactyly of the hands and feet. Oral manifestations usually include bifid uvula, a Byzantine arch palate associated with lateral swellings of the palatine processes, severe maxillary dental crowding associated with teeth malposition, severe open bite, dental caries, and gingival and periodontal disorders. Florid osseous dysplasia is an asymptomatic lesion mostly encountered during casual dental radiographic examinations as multiple sclerotic masses in 2 or more quadrants, usually in tooth-bearing regions.

Methods

A 32-year-old woman diagnosed with Apert syndrome was seen in our department for a routine dental examination. Radiographic evaluation showed multiple radiopaque lesions in the mandible. All teeth with radiopaque lesions gave positive responses to vitality tests, and the patient did not report any symptoms. Based on the clinical and radiographic findings, the diagnosis of florid osseous dysplasia in a patient with Apert syndrome was made. Because there were no signs of an intraoral infectious process or endodontic needs, the patient was followed during revisions for Apert syndrome, and the only treatment provided was conservative management of the many carious lesions observed during the clinical examination.

Conclusions

To our knowledge, this is the first study reporting the occurrence of florid osseous dysplasia in a patient with Apert syndrome. Conservative management should be performed in asymptomatic cases. Although rare, our case report highlights the importance of florid osseous dysplasia as a condition that may mimic lesions with an endodontic origin in patients with Apert syndrome.     

Multiple hamartoma syndrome (Cowden's syndrome): case report and literature review

Multiple hamartoma syndrome (also known as Cowden's syndrome) is a genetic disorder. The signs and symptoms of this disorder often do not appear concurrently or with the same degree of severity. While much of the literature regarding Cowden's syndrome (CS) focuses on the dermatologic and gastro-enterologic features of the disease, there also are unique oral and facial symptoms that manifest early in this condition. This disorder might be overlooked and underdiagnosed by the dental community. There is a strong link between CS and female breast cancer, thyroid cancer, gastrological polyps, and rare forms of brain cancer; as a result, it is essential for the dental community to gain a greater understanding of this syndrome and its unique oral manifestations.     

Oral features in five adult patients with Wolf-Hirschhorn syndrome

The Wolf-Hirschhorn syndrome (WHS) is a rare genetic condition presenting with severe mental disability, growth retardation, muscular hypotonia, seizures, craniofacial abnormalities and defects in the cardiovascular, genitourinary and digestive apparata. To date, few data about oral status of afflicted patients were reported, and this syndrome is still unfamiliar among dental and maxillofacial professionals. Aim of the present case series was to provide oral data from five patients with WHS (3 women and 2 men) aged 19-41 years. All patients entered in a long-stay Institution with an inner dental service in 1998 and underwent regular dental examination and hygiene treatment. Neither tooth agenesis or dental size and shape anomalies were found in the analyzed subjects except for one man showing multiple cone-shaped teeth. At the beginning, bad dental and periodontal conditions with gingival signs and recurrent mucosal inflammation were found in all patients. After motivation of their tutors, dental and periodontal parameters were recorded during periodic assessments and a large decrease in the gingival index was found over time. These data could aware dentists about the therapeutic modalities to improve oral health of WHS patients.     

Evidence-based orthodontics

Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant condition manifesting as a heterogeneous group of features. Of particular note are the ocular and craniofacial anomalies and dental features such as hypodontia, microdontia, taurodontism, enamel hypoplasia, conical-shaped teeth, shortened roots and delayed eruption. To treat cases with ARS effectively, a multidisciplinary approach is required, and this report describes the complex and long-term management of a case with input from Paediatric Dentistry, Orthodontics, Restorative Dentistry, Speech and Language Therapy, Oral and Maxillofacial Surgery and Radiology.     

Muenke syndrome associated with multiple osteochondromas

Muenke syndrome caused by the FGFR3 Pro250Arg mutation is associated with craniosynostosis, hearing loss, and various bony anomalies. Although this mutation is involved in bone growth and development, bony tumors are rare in this condition. We describe a patient with a molecular diagnosis of Muenke syndrome who also presented with multiple osteochondromas of the upper and lower extremities. This association has only been described once before in a patient with an isolated osteochondroma of the proximal tibia. Altered expression of FGFR3, an important mediator of chondrocyte proliferation and differentiation during in the growth plates of long bones, may help to explain the development of osteochondromatous lesions in this patient.     

Klippel-Trenaunay-Weber Syndrome: A clinical case report

Klippel-Trenaunay-Weber Syndrome (KTWS) is a rare condition and presents the main characteristics of cutaneous hemangiomas, the presence of varicose veins, and hyperplasia of the soft and hard tissues on different parts of the body. This syndrome is characterized by an extreme individual variability, given that the majority of patients do not clearly present this classic trio. This condition is diagnosed at birth or in the first years of life, defined as a non-hereditary, but congenital, abnormality caused by a gene mutation in one autosomal dominant or recessive gene. The clinical signs are present at birth and are highly variable according to their severity. A female patient, 6 years of age, sought out an orthodontist, complaining of a facial asymmetry and presenting a history of ectopic eruptions. In the anamnesis, the patient's guardian reported that the child suffers from KTWS. This condition is characterized by an extreme degree of variability when it affects the craniofacial region, with the majority of patients not showing the classic trio of signs. KTWS is a rare and unknown condition; however, it does require interdisciplinary knowledge, considering, first and foremost, the diverse vascular changes associated with other maxillofacial and dental needs.     

Gorlin-Goltz syndrome and neoplasms: a case study

Gorlin syndrome is a rare autosomal dominant disorder exhibiting high penetrance and variable expressivity. It is characterized by facial dysmorphism, skeletal anomalies, multiple basal cell carcinomas, odontogenic keratocysts (OKC), palmar and plantar pits, bifid ribs, vertebral anomalies and a variety of other malformations. Various neoplasms, such as medulloblastomas, meningiomas, ovarian and cardiac fibromas are also found in this syndrome. Objective: To describe a twelve-year-old patient with Gorlin-Goltz syndrome, with basal cell carcinomas and promyelocytic leukemia developed after receiving craniospinal radiation for a medulloblastoma. Bifid ribs as well as mandibular and maxillar OKC were also diagnosed Conclusion: The patient with Gorlin-Goltz syndrome should receive close follow-up for early detection of malformations nd malignant neoplasias.     

A novel finding of oligodontia and ankyloglossia in a 14‐year‐old with Floating‐Harbor syndrome

Floating‐Harbor syndrome (FHS) is a rare genetic condition characterized by distinct facial features, short stature and delayed skeletal development. Here we present case of a 14‐year‐old boy with short stature, typical facial features, impaired voice quality, clinodactyly, cryptorchidism and unilateral agenesis of kidney. In addition he had oligodontia and ankyloglossia with features suggestive of FHS. Treatment rendered was restoration of caries, application of pit and fissure sealants followed by frenectomy. The purpose of this report is to highlight the oral developmental anomalies and the management of a patient with FHS and to add to the current knowledge of the literature on this syndrome.     

Syndromic craniosynostosis in a modern-age skeleton from Siena, Italy

The skeleton of a female adult found in archaeological excavations carried out in Siena (central Italy) and dated back to the modern age showed a severe skull malformation due to the premature bilateral closure of the coronal suture, which determined a deformed brachycephalic skull. This craniosynostosis was associated with other malformations, such as shallow orbits, hypertelorism, mandibular prognathism, and consequent malocclusion, but there was absence of anomalies in the remaining bones of the extremities. These features did not seem to be related to an isolated condition but to a more complex genetic syndrome, suggesting a possible case of Crouzon syndrome. Besides representing a rare finding in archaeological material, the present case provides the opportunity to observe in an adult subject lesions typical of this congenital disorder, which is at present surgically corrected in infantile age.     

Schimmelpenning syndrome: an association with vascular anomalies.

OBJECTIVE: Schimmelpenning syndrome is a rare neurocutaneous disorder characterized by craniofacial nevus sebaceus in association with seizures, developmental delay, and ocular or skeletal pathology. Vascular anomalies also have been described in this condition, and some authors have suggested that the two entities are associated. The purpose of this study was to determine the prevalence of vascular anomalies in Schimmelpenning syndrome. METHODS: We reviewed the medical records of patients with Schimmelpenning syndrome who were evaluated or were managed at Children's Hospital Boston between 1980 and 2005. In addition, all published cases purported to be Schimmelpenning syndrome were analyzed to determine whether the primary diagnosis was accurate and whether or not there were concurrent vascular anomalies. RESULTS: Three of nine patients (33.3%) in our series had a vascular malformation. One patient had coarctation, aortic aneurysm, renal artery, and carotid stenosis; another had a thoracic lymphatic anomaly with chylothorax; and the third had lymphedema of the lower extremities and lymphatic malformation of the neck/chest with chylothorax. Additional findings were seizures (78%), ocular pathology (78%), developmental delay (56%), and skeletal abnormalities (67%). Of 119 cases of authenticated Schimmelpenning syndrome in the literature, 18 vascular malformations were documented in 15 patients (12.6%): venous (n = 7); arterial (n = 5); lymphatic (n = 3); capillary (n = 2); and arteriovenous (n = 1). CONCLUSIONS: Vascular malformations occur with a higher frequency (12.6 to 33%) in patients with Schimmelpenning syndrome compared with the general population (<1%). Therefore, we conclude that there is an association between vascular anomalies and Schimmelpenning syndrome.     

Hypodontia, impacted permanent teeth, spinal defects, and cardiomegaly in a previously diagnosed case of the Yunis-Varon syndrome.

The Yunis-Varon syndrome is a rare hereditary disorder with ectodermal and skeletal anomalies that include agenesis or hypoplasia of the clavicles, craniofacial disproportion with severe micrognathia, digital anomalies, prenatal and postnatal growth deficiency, and neonatal death. Only 12 cases have been reported in the literature. Although neonatal death is a significant feature of this syndrome, two case reports describe children, both males, who were 30 months and 3 years of age at the time of investigation. The 30-month-old child was reexamined at 11 years of age, and had further clinical and radiologic features that included hypodontia, impacted permanent teeth, spinal defects, cardiomegaly, bilateral hearing loss, and metatarsus adductus. Children who survive the neonatal period and continue to thrive with many of the features of the Yunis-Varon syndrome as well as the new features described in this article may not have a distinct yet related syndrome.     

Auriculo-condylar syndrome

The auriculo-condylar syndrome is caused by abnormalities of the first and second pharyngeal arches during embryonic development. Its inheritance follows the autosomal dominant pattern. Both familial and individual cases are reported in the literature. The syndrome is characterized by wide phenotypic variation, with affected individuals expressing clinical signs of variable severity due to variable expressivity of the responsible genes. Clinical signs of the syndrome include auricular malformation, hypoplasia of the mandibular condyles, anomalies of the temporomandibular joints, malocclusion, and, in more severe cases, cleft palate, glossoptosis, facial asymmetry, and respiratory problems. The aim of this article is to report a case of a female patient with signs of the auriculo-condylar syndrome and to present the pedigree of her family. Clinical findings, diagnosis, treatment plan, and final treatment are analyzed.     

Auriculo-condylar syndrome: Diagnosis,treatment, and family history of a patient

The auriculo-condylar syndrome is caused by abnormalities of the first and second pharyngeal arches during embryonic development. Its inheritance follows the autosomal dominant pattern. Both familial and individual cases are reported in the literature. The syndrome is characterized by wide phenotypic variation, with affected individuals expressing clinical signs of variable severity due to variable expressivity of the responsible genes. Clinical signs of the syndrome include auricular malformation, hypoplasia of the mandibular condyles, anomalies of the temporomandibular joints, malocclusion, and, in more severe cases, cleft palate, glossoptosis, facial asymmetry, and respiratory problems. The aim of this article is to report a case of a female patient with signs of the auriculo-condylar syndrome and to present the pedigree of her family. Clinical findings, diagnosis, treatment plan, and final treatment are analyzed.     

Goltz syndrome - a case report

The Goltz (Goltz-Gorlin) syndrome or focal dermal hypoplasia is a relatively rare disease. Its clinical manifestation shows a great variety. The syndrome characterized by anomalies of cutaneous, osseous, dental and ocular structures. The authors present the case of a six-year-old girl with typical anomalies of Goltz-Gorlin syndrome with special respect to the dental problems.     

A less-invasive approach with orthodontic treatment in Beckwith-Wiedemann patients

The Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder, linked to an alteration on the short arm of chromosome 11 that comprises multiple congenital anomalies. Macroglossia is the predominant finding, with subsequent protrusion of dentoalveolar structures, which results in a protruding mandible, anterior open bite, abnormally obtuse gonial angle and increased mandibular length. A less-invasive treatment with orthopaedic appliances in a patient with early tongue reduction is presented. This work summarizes the oral signs linked to macroglossia, and highlights the influence of macroglossia on mandibular growth structures. In our opinion, glossotomy could be carried out in the paediatric patient as a preventive measure in that it curbs the tongue's influence on skeletal growth and dramatically reduces the duration and extensiveness of subsequent treatment.