Pfeiffer syndrome: oral healthcare management and description of new dental findings in a craniosynostosis

Pfeiffer syndrome is a rare fibroblast growth factor receptor‐related craniosynostosis with variable clinical presentations. We describe new dental findings of hypodontia, microdontia, dilacerations, and radicular dentin dysplasia in a 19‐year‐old girl, and discuss the oral health management.     

Craniofacial and dental characteristics of Goldenhar syndrome: a report of two cases

We describe the dental and craniofacial anomalies of 2 ethnically distinct patients with Goldenhar syndrome, which is characterized by hemifacial microsomia, facial asymmetry, and ear and dental abnormalities. A 7-year-old Japanese girl and 12-year-old Turkish boy with Goldenhar syndrome were examined clinically and radiographically; both had symptoms of hemifacial microsomia. Multiple organ involvement can limit surgical correction of deformities and affect patient management. Therefore, long-term regular follow-up by a multidisciplinary team is important to monitor the growth and development of patients.     

Early orthodontic management of Crouzon Syndrome: a case report

Crouzon Syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. Once the sutures become closed, growth potential to those sutures is restricted. However, multiple sutural synostoses frequently extend to premature fusion of skull base causing midfacial hypoplasia, shallow orbit, maxillary hypoplasia and occasional upper airway obstruction. The case of a 7-year-old South African black boy with Crouzon Syndrome is presented. He presented with characteristic triad of cranial deformity, maxillary hypoplasia and exophthalmos. The clinical, cephalometric features and initial orthodontic management of this patient are discussed as part of multidisciplinary management.     

Treacher Collins syndrome: comprehensive evaluation and treatment

When contemplating the reconstructive options for patients with Treacher Collins syndrome, surgeons must recognize the complex interplay between growth of the craniofacial region and the possible effects of early surgery on further growth. Consequently, surgical procedures for the deformities in Treacher Collins syndrome are staged based on the dysmorphology and the growth velocity of each anatomic region. This article reviews the evaluation and management considerations for patients with Treacher Collins syndrome.     

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.     

Ellis‐Van Creveld syndrome: dental management considerations and description of a new oral finding

Ellis‐Van Creveld is a rare syndrome with characteristic dental and orofacial findings. Dental management of patients with Ellis‐Van Creveld syndrome can be complicated by the associated skeletal and cardiac abnormalities. Here, we present the dental and orofacial findings in a patient with Ellis‐Van Creveld syndrome, describe a new oral finding, and discuss the dental management considerations.     

Bannayan-Riley-Ruvalcaba syndrome: report of a family

Bannayan-Riley-Ruvalcaba (BRR) syndrome is a rare inherited condition. We describe the protean orofacial manifestations of this syndrome in one family and consider their management. The dental surgeon should be aware of this entity, its orofacial connotations and the possible association with Cowden's syndrome.     

Dental management of a pediatric patient with myelodysplastic syndrome

Myelodysplastic syndrome in the pediatric population is an extremely rare-hematological disorder. An eleven-year-old girl with a remarkable, past medical history of myelodysplastic syndrome is presented. She was treated for a falling hematocrit and platelet count, with splenectomy as a lifesaving measure. The features of the syndrome and treatment options are described. The clinical protocol for the dental management of the pediatric patient with myelodysplastic syndrome is discussed.     

Distraction in a case of otopalatodigital syndrome type II

INTRODUCTION: Otopalatodigital syndrome type II is a rare X-linked recessive disorder with generalized skeletal dysplasia and hearing anomalies. Its features include conductive hearing loss, unusual facies, cleft palate, micrognathia, and overlapping flexed fingers and toes. It is a more lethal variant of otopalatodigital syndrome type I. There are many consistently reported craniofacial and dental findings; however, no case has been published in dental literature. CASE REPORT: We report a case of otopalatodigital syndrome type II with micrognathia, cleft of the soft palate, and partial anodontia, and discuss the combined orthodontic and surgical management. CONCLUSION: We also discuss the differential diagnosis and consider more recent theories on possible aetiology as well as clinical management strategies for such cases.     

Management of an ameloblastoma in a patient with Sanfilippo's syndrome

Detection and subsequent surgical management of an acanthomatous ameloblastoma is described in a patient with Sanfilippo's syndrome, type A. The literature does not support a correlation of ameloblastoma to the presence of Sanfilippo's syndrome.     

Pierre Robin: a personal diary.

This personal diary of the birth and subsequent management of a child with Robin sequence secondary to Stickler syndrome is written by a mother who also has Stickler syndrome. Her discussion of the case illustrates the importance of reaching a primary diagnosis in order to deliver good patient care.     

Unusual variant of chorda tympani syndrome, its management, and a proposal on the nervous pathways involved

Chorda tympani syndrome is an uncommon condition with similarities to Frey syndrome. We describe a variant of chorda tympani syndrome and its management, and put forward a hypothesis for the nervous pathways involved; something that seems to be lacking in published material.     

Treatment of macroglossia in a child with Weaver syndrome

Weaver syndrome is a rare disorder, characterized by accelerated growth, advanced osseous maturation and distinct craniofacial features. Macroglossia and hypothyroidism are seldom mentioned in the literature as clinical findings associated with the syndrome. This paper describes a patient with Weaver syndrome, referred for consultation and treatment of macroglossia, who also suffered from congenital hypothyroidism. This is the first reported case of Weaver syndrome treated with partial glossectomy (tongue reduction). The paper describes the clinical findings of the syndrome, emphasizing the difficulty in identifying it, the indications for partial glossectomy and the authors' recommended operative technique.     

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??The association between children malocclusion and obstructive sleep apnea-hypopnea syndrome has been gradually accepted. Pediatric obstructive sleep apnea-hypopnea syndrome is a common kind of pediatric sleep breathing disease. In our clinical practice??we find many??malocclusions in children have been accompanied by OSAHS. Diagnosis and management of children obstructive sleep apnea syndrome need multidisciplinary cooperation. The plysicians at first diagnosis who have the knowledge of sleep breathing can make early diagnosis and develop individualized treatment programs??which helps children growth development to move towards normality.     

Lenz microphthalmia syndrome with dental anomalies: a case report

This report describes the dental management and 7-year follow-up of a 14-year-old boy who showed the typical characteristics of Lenz microphthalmia syndrome, a rare genetic disorder characterized by multiple abnormalities. The main features of the syndrome are microphthalmia, developmental retardation, ear abnormalities, microcephaly, skeletal, digital and urogenital anomalies. The dental anomalies include micrognathia, hypodontia, agenesis of permanent teeth, conic-shaped incisors, and taurodontic molars. The purpose of the report was to document specific oral manifestations and dental anomalies and their management associated with a previously reported case.     

Gardner syndrome: presurgical planning and surgical management of craniomaxillofacial osteomas

Gardner syndrome, a variant of familial adenomatous polyposis, is an autosomal dominant genetic disease characterized by the combined presence of multiple intestinal polyps and extraintestinal manifestations. The extraintestinal manifestations include multiple osteomas, connective tissue tumors, thyroid carcinomas, and hypertrophy of the pigmented epithelium of the retina. Osteoma is a benign neoplasm of bone tissue characterized by slow continuous growth that usually affects the long bones and cranial bones and is a major symptom for Gardner syndrome. The authors report the extraintestinal lesions affecting the maxillofacial regions in 2 male patients (father and son) with Gardner syndrome. The presurgical planning and surgical management of these lesions are described.     

Dental management of a patient with Rubinstein–Taybi syndrome

Rubinstein–Taybi syndrome (RTS) occurs in one out of 300,000 individuals. It is mainly characterized by a delay in growth, psychomotor retardation, duplication of the distal phalanx of the thumbs, typical facial dimorphism, a risk of cancer, and multiple dental abnormalities. This case report describes the dental management of a 13‐year‐old female with RTS, who had multiple dental problems such as caries, periodontal disease, and a severe malocclusion. Physical findings were similar to those previously described in other reports. Dental treatment was carried out under sedation due to the patient's inability to cooperate during dental treatment. After 3 years of follow‐up there were no new caries and the periodontal health had improved.     

Sturge-Weber syndrome in a 6-year-old girl

Sturge-Weber syndrome is a congenital disorder characterized by vascular facial birthmarks and neurological abnormalities. Oral cavity involvement may occur, and the extent of the vascular abnormality may vary considerably. The present authors report the case of a 6-year-old girl with Sturge-Weber syndrome, focusing on the clinical and radiographic features. Her dental management involved a multidisciplinary team and included orthodontic treatment using removable appliances.     

Abnormal mandibular growth after craniovertebral surgery in Morquio syndrome type A

Morquio syndrome or MPS4A is an autosomal recessive inherited metabolic disease, due to a deficiency of N-acetil-galactosamine-6-sulfatase (OMIM 253000). Hypoplastic odontoid processes causing atlantoaxial subluxation and cervical myelopathy are usual clinical findings. Surgical intervention of craniocervical fusion is often performed to prevent this complication. Clinical and cephalometric findings in a patient affected by Morquio syndrome after craniovertebral surgery are described. Facial growth pattern in the lateral plane changed dramatically. The mandibular gonial angle (ArGoMe), the body of the mandible (GoGn), and the total length of the mandible (CoGn) increased abnormally, whereas the mandibular ramus (CoGo) exhibited normal growth. Knowledge of the possibility of abnormal mandibular growth may contribute in long-term orthodontic management of such subjects.