Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports

Hemifacial microsomia is a rare dentofacial anomaly which is regarded as a separate entity to Goldenhar syndrome and primarily affects the structures of the first branchial arch. It has a heterogeneous aetiology and tends to occur sporadically, though positive family histories have been reported. This paper reports on individuals in two generations of a family that has overlapping features of hemifacial micro-somia and Goldenhar syndrome segregating as an autosomal dominant condition.     

Crouzon syndrome--A case report

Crouzon syndrome is a genetic disorder also known as branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects. Previously referred to as craniofacial dysostosis, the disorder is characterized by a number of clinical features; to date, it has no known single, initiating defect to account for all its characteristics. This article presents a case report of a 10-year-old boy with classical skeletal and soft tissue features of Crouzon syndrome.     

Enamel dysplasia with odontogenic fibroma-like hamartomas: review of the literature and report of a case

This article reports on a case presenting with a rare syndrome characterized by enamel dysplasia and multiple unerupted teeth with large solid fibrous pericoronal lesions manifesting with odontogenic fibroma-like features. Our case shows in addition to these findings an anterior open bite malocclusion and gingival overgrowths. These overgrowths exhibit the microscopic features of the multiple pericoronal odontogenic fibroma-like lesions that appear to be the hallmark of this syndrome. This unusual case brings the total number documented in the literature to 5, all of which were reported from South Africa.     

Incontinentia pigmenti

Incontinentia pigmenti or Bloch-Sulzberger syndrome, is a rare X linked dominant disorder with characteristic skin, hair, eye, dental and neurological abnormalities commonly affecting females. This article reports the clinical features and management of a 11 year old girl diagnosed with Incontinentia pigmenti.     

Enamel dysplasia with hamartomatous atypical follicular hyperplasia: review of the literature and report of a case

This article documents an additional case of a rare syndrome, reported only in black persons in South Africa. It is characterised by hamartomatous atypical follicular hyperplasia with central odontogenic fibroma (WHO-type)-like features attached to multiple impacted teeth, and with generalized enamel dysplasia showing features of hypoplastic amelogenesis imperfecta. Other features associated with the syndrome, but not present in all reported cases, include open-bite malocclusion, gingival overgrowth, hypodontia, pulpal calcifications and aberrant root formation of the unerupted teeth. Our present case shows the additional feature of impacted supernumerary teeth. As we cannot find any reports in the literature of the occurrence of amelogenesis imperfecta-like enamel dysplasia associated with hamartomatous follicular hyperplasia showing the features of WHO-type central odontogenic fibroma, with or without the additional features mentioned above, we propose to name this syndrome Enamel Dysplasia with Hamartomatous atypical Follicular Hyperplasia (EDHFH) syndrome.     

第一鳃弓综合征合并唇腭裂病例报告及文献回顾

第一鳃弓综合征是一类少见的先天性畸形,而合并唇腭裂的患者临床报告更是罕见,该文通过回顾1例第一鳃弓综合征合并唇腭裂的患者,并对近期国内外文献做一回顾性分析,对这一类疾病的常见临床表现、病因的遗传学研究及目前的综合性治疗措施进行介绍。     

The median cleft face syndrome with associated cleft mandible, bifid odontoid peg and agenesis of the anterior arch of atlas

A case is reported of median cleft face syndrome with bifid tongue and odontoid peg and failure of formation of the anterior arch of the atlas. These are features which have not been reported previously. The preoperative CT demonstrated its potential to enhance our understanding of complex and rare craniofacial deformities.     

Goldenhar syndrome with various clinical manifestations.

Four case reports of children with clinical features of Goldenhar syndrome are described. Although the syndrome itself is not very rare, the occurrence in dizygotic twins and the presence of heart dextroposition and peripheral facial nerve palsy, which are rare associations, prompted the report of these cases.     

Cleft palate in Kabuki syndrome: a report of six cases.

Kabuki syndrome is a syndrome of rare congenital anomalies that was named after its characteristic appearance, a face resembling that of an actor in a Kabuki play. Although cleft palate is a feature that is sometimes observed in patients with Kabuki syndrome, there are few clinical reports of cleft palate associated with Kabuki syndrome. This report presents six cases of Kabuki syndrome with cleft palate and reviews their clinical features. Our results suggest that (1) patients with cleft palate in Kabuki syndrome tend to fail in acquiring normal velopharyngeal function and (2) submucous cleft palate might be more common in patients with Kabuki syndrome than previously was reported.     

Case report: multiple endocrine neoplasia type 2B misdiagnosed as familial dysautonomia.

BACKGROUND: Familial dysautonomia (FD) is a rare autosomal recessive disorder of the peripheral nervous system, affecting exclusively Jewish children of Ashkenazi extraction. The typical clinical features consist of somatic abnormalities: failure to thrive, characteristic facies, excessive sweating, labile blood pressure, recurrent aspiration pneumonias, lack of tears, and diminished and later absent deep tendon reflexes with generalized reduction of pain sensation. Oro-dental features include a lack of tongue fungiform papillae, impairment of taste, oro-dental self-mutilation, dental crowding, excessive plaque and calculus accumulation, salivary over production and low caries experience. CASE REPORT: A child with multiple endocrine neoplasia type 2B (MEN 2B) received, at the age of 11 months, an incorrect diagnosis of familial dysautonomia (FD). At the age of 6 years, a paediatric dentist experienced with FD noticed a normal number and shape of tongue fungiform papillae, while expecting to find a smooth tongue lacking those structures. The presence of numerous submucosal neuromata initiated a meticulous neurological and endocrine work-up, which established the diagnosis of MEN 2B. This led to an early detection and appropriate treatment of asymptomatic medullary thyroid carcinoma (MTC).     

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.     

Prosthetic rehabilitation of a Crouzon patient: A case report

Crouzon syndrome is a rare genetic disorder, which can be defined as a variation of craniofacial dysostosis caused by the premature obliteration and ossification of two or more sutures. The growth pattern results in pseudoprognathism and malocclusions including an overcrowded or a widely spaced dentition. Specifically maxillary arch is narrow, high, and V-shaped. Cleft palate and bifid uvula are other possible features in the oral cavity. This report describes a non-surgical treatment model to overcome the remaining significant Class III intermaxillary relation and excessive tooth loss to recover function and aesthetics for a 25-year-old Crouzon patient.     

Oral findings and dental treatment in a child with West syndrome

West syndrome (WS) is a rare, severe form of epilepsy that typically manifests early in infancy. It is considered a malignant condition that combines episodes of spasms that occur in clusters (infantile spasm), hypsarrhythmia on the electroencephalogram, and neuropsychomotor delay. Although WS has been widely investigated from a medical standpoint, few reports have focused on the oral findings in patients with this syndrome. This article reports the case history of a 7-year-old child diagnosed with WS. The major clinical features were generalized tooth wear and gingival enlargement, altered chronology and sequence of dental eruption, primary canine cusp-to-cusp relationship, ectopic dental eruption, and mildly arched palate. Multiple white spot lesions were also observed, possibly associated with poor oral hygiene, due to a fermentable carbohydrate-rich diet, and continuous use of sugar-containing medications. Dental care management of patients with special needs is discussed and the dental treatment for this child with WS is described.     

Dental findings and muscular-skeletal features in Schwartz-Jampel syndrome: case report of two affected siblings

Schwartz‐Jampel syndrome (SJS) is a rare, inherited disorder defined by myotonia, skeletal malformations, muscular stiffness, and growth retardation. The clinical signs and symptoms of SJS are seen in the maxillofacial region. The combination of skeletal and muscular abnormalities predisposes affected individuals to a number of primary and secondary orodental manifestations. Although several studies have discussed the clinical features of SJS from a medical perspective, few reports have addressed the oral findings or dental treatment in children and adolescents with the disorder. This article reviews the dental manifestations and impairments of Schwartz‐JBmpel syndrome The case histories of two siblings diagnosed with this disorder are described as well as their dental care.     

Mandibular lateral incisor-canine transposition (Mn.12.C): a case report

Tooth transposition is a rare developmental anomaly of the teeth characterized by positional interchange of permanent tooth leading to disintegration in the alignment in the affected segment, shifting of midline and malocclusion of teeth. This article reports a rare case of Mn.12.C anomaly affecting right mandibular arch of a (11 year old) female child causing shifting of midline and crowding.     

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.     

Goldenhar's syndrome--case report

Goldenhar's syndrome is a rare condition described initially in the early 1950's. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformation of the ears. In 1963, Gorlin suggested the name oculo-auriculo-vertebral (OAV) dysplasia for this condition and also included vertebral anomalies as signs of the syndrome. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. This work reports a case of Goldenhar's syndrome in an 11-year-old female, who presented all classical signs of this rare condition     

140例第一、二鳃弓综合征患者腮腺发育状况分析

目的： 通过观察及评价第一、二鳃弓综合征（first and second branchial arch syndrome, FSBAS）患者头颅CT的腮腺影像,分析FSBAS患侧腮腺的发育状况。方法：回顾2013年1月—2018年11月在北京大学口腔医院口腔颌面外科接受治疗的140例第一、二鳃弓综合征病例,解读并整理放射科评价腮腺的CT报告结果,将其归纳为3类表现形式：第Ⅰ类—与对侧相比,腮腺大致对称;第Ⅱ类—患侧腮腺明显小于对侧（发育不良）;第Ⅲ类—患侧未见腮腺影像（缺如）。对3种类型的构成比进行分析。结果：140例FSBAS患者中,3类腮腺表现的构成比为第Ⅰ类32例,占22.9%;第Ⅱ类22例,占15.7%;第Ⅲ类86例,占61.4%。结论：第一、二鳃弓综合征的腮腺表型中,患侧腮腺缺如（或发育不良）占绝大多数。腮腺缺如或许可作为第一、二鳃弓综合征的主要表型之一。     

"Craniofacial and dental manifestations of a case of Proteus syndrome"

Proteus syndrome, which is a reference to the ancient Greek god Proteus, the Polymorphous, was called to the attention of pediatricians. Recognition of this syndrome has been difficult because of the variability of the syndrome's manifestations and because of its rarity. We describe a rare case of Proteus syndrome and we discuss its differential diagnosis. Our case presents with hemi facial hypertrophy, scrotal tongue, enamel hyperplasia as well as differential in the size of the dentition on both sides of the arch.     

Periodontal management of gingival enlargement associated with Sturge-Weber syndrome

BACKGROUND: Sturge-Weber syndrome (encephalotrigeminal angiomatosis) is a rather uncommon congenital condition that is characterized by a combination of venous angioma of leptomeninges over the cerebral cortex and ipsilateral angiomatous lesions of the face and sometimes of the skull, jaws, and oral soft tissues. It is commonly referred to as Sturge-Weber syndrome after Sturge and Weber who first described this affliction in 1879. This article presents a case of Sturge-Weber syndrome associated with severe gingival enlargement, its management, and follow-up results. METHODS: A 15-year-old male patient was referred to the Department of Periodontics, Government Dental College and Hospital, for severe gingival enlargement. A detailed dental and medical history, clinical examination, and investigations confirmed the diagnosis of Sturge-Weber syndrome. This report reveals a classic presentation of the syndrome with emphasis on its oral manifestations. Periodontal management included thorough scaling and root planing followed by periodontal flap surgery to treat the gingival enlargement. Histopathologic examination of the excisional biopsy specimen revealed features suggestive of fibrous gingival enlargement. RESULTS: Reevaluation of the patient after 2 years showed remarkable (90%) reduction of the gingival enlargement in the maxillary arch and complete diminution (100%) in the mandibular arch. However, a slight recurrence was noted in the maxillary right quadrant. CONCLUSIONS: Sturge-Weber syndrome is clinically important to the periodontist because of its associated gingival vascular features and their complicating manifestations. Periodic systemic and oral examinations are recommended to identify and prevent any complications from the cranial and oral lesions.