Nasal gliomas: identification and differentiation from hemangiomas

SUMMARY: Nasal gliomas are rare congenital midline tumors composed of heterotopic neuroglial tissue. The differential diagnosis of a nasal glioma includes neurogenic tumors, ectodermal tumors, mesodermal tumors, and teratomas. Initial evaluation of a nasal glioma should include skull radiographs and either a CT or MRI scan to rule out intracranial extension. CT or MRI scans can be used, but MRI scans are preferable due to their superior soft tissue enhancement. There have been several cases reported in which nasal gliomas were misdiagnosed as capillary hemangiomas. In cases in which clinical uncertainty exists, ultrasound and Doppler flow studies can be performed to noninvasively differentiate nasal gliomas from capillary hemangiomas. Ultrasound is useful for determining if the mass is cystic or solid. Doppler flow studies of nasal gliomas reveal a characteristic low arterial flow velocity during the end-diastolic phase. Microscopic and immunohistologic studies provide definitive confirmation of a nasal glioma. Once the diagnosis of a nasal glioma is established, early surgical resection is advocated to prevent local recurrence, nasal deformity, and secondary visual involvement.     

Palatal lymphangioma: a case report

Lymphangioma is a rare, congenital benign tumor involving vascular malformation, with a great potential for recurrence. It appears during the early years of life and therefore is highly common among children. We report here a five-year-old patient with a simple lymphngioma. The mother of the child reported she had noted the lesion in the palate after an injury in the area with a pen. The recommended treatment was surgical excision since this was a small and well-delimited lesion. Periodic clinical controls for 18 months showed that mucosa presented normal characteristics, with no signs of recurrence.     

Dental team management for a patient with Klippel–Feil syndrome: Case report

Klippel–Feil syndrome (KFS) is a rare congenital abnormality characterized by a short neck, a low posterior hairline, and limited head movement. Occasionally, patients with KFS may also show signs of deafness, intellectual disability, cardiac malformation, palpebral ptosis, facial nerve paralysis, cleft palate, and scoliosis. Although some researchers have documented this syndrome, scant attention has been paid to craniomaxillofacial manifestations and dental treatment of patients with KFS. The objective of this case report was to describe the planning and execution of dental treatment for a 10-year-old male patient with KFS.     

Oculoauriculovertebral spectrum with a full range of severe clinical manifestations – Case report

Oculoauriculovertebral spectrum (OAVS) is a rare congenital malformation consisting of epibulbar dermoids, lid colobomas, auricular deformities, hypoplasia of the soft and bony tissues of the face, associated oral deformities and vertebral anomalies. This report presents a child with a choroid of the right eye, coloboma of the upper eyelid, epibulbar dermoid of the left eye, mandibular hypoplasia, facial asymmetry, bilateral complete cleft lip and palate, hypoplasia of the left alar cartilage, appendage of the left nose, butterfly vertebral defects of Th-1, Th-2 and abnormality of rib XI. Widened sulci of frontal and parietal lobes, bilateral white matter density decrease and calcifications of falx cerebelli were noted. Axial hypotony and delayed psycho-motor development were apparent. This rare case presents a range of severe clinical manifestations of oculoauriculovertebral spectrum. Despite a normal cervical vertebral column, tracheostenosis was present. It caused difficulties in tracheal intubation, creating the need for a tracheostomy, and death after a failed attempt at decannulation. This case indicates that in patients with clinical manifestations including cerebral anomalies, a risk of respiratory insufficiency should be always taken under consideration, when planning surgery.     

The mechanism of TGF-β signaling during palate development

Cleft palate, a malformation of the secondary palate development, is one of the most common human congenital birth defects. Palate formation is a complex process resulting in the separation of the oral and nasal cavities that involves multiple events, including palatal growth, elevation, and fusion. Recent findings show that transforming growth factor beta (TGF-β) signaling plays crucial roles in regulating palate development in both the palatal epithelium and mesenchyme. Here, we highlight recent advances in our understanding of TGF-β signaling during palate development.     

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。     

Ankyloglossia superior syndrome: case report and review of publications

Ankyloglossia superior syndrome is a rare malformation that consists of a fibrous or osseous connection between the tip of the tongue and the hard palate, and additional congenital anomalies such as cleft palate, gastrointestinal malformations, and deformed limbs. We present the case of a 5-year-old boy with ankyloglossia superior syndrome that comprised the complete complex malformation. We reviewed previous publications and summarise the different theories of its genesis.     

Le Fort I in cleft patients: 20 years' experience

Primary surgery for cleft lip, alveolus, and palate is only the beginning of management for this condition, because the congenital malformation and the scars of corrective surgery during infancy affect the physiological development of the skeleton and the soft tissue. Once the patient has stopped growing, therefore, secondary maxillomandibular malformation is frequent in these patients. The most frequent skeletal malformations in secondary cleft lip and palate are hypoplasia and malposition in the three planes of the superior maxilla space. In these cases, combined orthodontic and surgical treatment is necessary; of the various techniques available, Le Fort I osteotomy is the one most indicated for repositioning of the maxilla. Although this technique is now standardized to correct the simple maxillo-mandibular malformation, in the case of secondary malformation in the cleft lip and palate, modifications are necessary in the surgical technique to ensure the best esthetic and functional result and to reduce the possibility of relapse. After 20 years' experience in the treatment of secondary skeletal malformation in cleft lip, alveolus, and palate, a critical review is made of the different steps of planning and performing Le Fort I osteotomy in these patients.     

Malformation of the vomer in submucous cleft palate.

BACKGROUND: Several criteria are described in the literature to diagnose a submucous cleft palate. Commonly the differences in the extent of the submucous cleft will not be as overt as in open clefts. Nevertheless, complete submucous cleft palate may cause imperfect palato-pharyngeal closure so that the affected person needs to undergo speech training and surgical treatment. PATIENTS: We investigated 30 patients who underwent palatal repair to correct this disorder. They were evaluated according to the Koch's documentation system. RESULTS: In all patients an additional malformation of the inner nose was found: The vomer was not fused with the palatal shelves. There were different degrees of severity of this vomerine malformation and they were not necessarily correlated with the extent of the palatal cleft. CONCLUSION: In our opinion, this malformation of the vomer should be seen as a typical symptom of classical submucous cleft palate. Discussion is needed on how the vomerine malformation should be incorporated into the surgical procedure. Since we know from septal surgery that a basal septal perforation will lead to disturbances of nasal breathing.     

Proboscis lateralis: a rare craniofacial anomaly, reconstruction, and long-term evaluation

Proboscis lateralis is a rare spontaneous congenital anomaly that results from a failure of normal embryological nasal development. The ensuing deformity consists of imbrication of the nasal soft tissues into a tubelike proboscis and can be associated with ipsilateral heminasal aplasia, choanal atresia, and multiple other abnormalities. A case report of a patient with proboscis lateralis is presented, with a 27-year follow-up detailing the complexities of long-term surgical management. After 15 major surgical interventions, there is relatively normal facial symmetry, but abnormalities remain with the underlying craniofacial skeleton and nasopharyngeal airway. Proboscis lateralis is not an isolated soft tissue abnormality but is a craniofacial defect that requires a long-term multidisciplinary approach to the surgical timing and treatment with lifelong follow-up.     

Malformation of the vomer in submucous cleft palate

Background: Several criteria are described in the literature to diagnose a submucous cleft palate. Commonly the differences in the extent of the submucous cleft will not be as overt as in open clefts. Nevertheless, complete submucous cleft palate may cause imperfect palato-pharyngeal closure so that the affected person needs to undergo speech training and surgical treatment. Patients: We investigated 30 patients who underwent palatal repair to correct this disorder. They were evaluated according to the Koch's documentation system. Results: In all patients an additional malformation of the inner nose was found: The vomer was not fused with the palatal shelves. There were with different degrees of severity of this malformation and they were not necessarily correlated with the extent of the palatal cleft. Conclusion: In our opinion, this malformation of the vomer should be seen as a typical symptom of classical submucous cleft palate. Discussion is needed on how the vomerine malformation should be incorporated into the surgical procedure. Since we know from septal surgery that a basal septal perforation will lead to disturbances of nasal breathing. Copyright 2001 European Association for Cranio-Maxillofacial Surgery.     

Hemifacial microsomia. A review

Hemifacial microsomia is a congenital asymmetrical malformation of the skull and the face. As a congenital malformation of the face hemifacial microsomia is second in prevalence after cleft lip and palate disorders. Combinations and degrees of underdevelopment of craniofacial structures vary greatly. Therapy varies and depends on the different anomalies, but mostly contains orthodontic and surgical treatment to improve symmetry. It is generally accepted that children with asymmetrical facial malformations are best treated in multidisciplinary craniofacial centres.     

Primary small cell carcinoma of the nasal cavity with an unusual oral manifestation

Small cell carcinoma (SCC) is a malignancy that mainly occurs in the lung, with primary lesions in the head and neck being very rare. This neoplasm has an aggressive growth pattern, high recurrence rate, and tendency to metastasize to other sites via the lymphatics and bloodstream. The prognosis of patients with SCC is poor, as the 5-year survival is only 13%. Treatment options include surgical excision, multiple-agent chemotherapy, and radiation therapy. We report a rare case of primary SCC of the nasal cavity presenting as a lesion of the hard palate and describe its clinical, histologic, and immunohistochemical features.     

A case of EEC (ectrodactyly, ectodermal dysplasia, and cleft lip) syndrome]

EEC syndrome is a rare congenital malformation characterized by ectrodactyly, ectodermal dysplasia, cleft lip and/or palate. We reported a case of EEC syndrome with cleft palate. The patient was a 15-month-old girl. She had split hands of the upper extremities, syndactyly and polydactyly of the right lower extremity, ectodermal dysplasia including sparse hair, enamel hypoplasia and cleft palate. The patient underwent palatoplasty at the age of 18 months.     

Heterotopic nasopharyngeal brain tissue associated with cleft palate.

OBJECTIVE: The occurrence of extracranial brain tissue is rare. Most of the literature describes cases in which it is located around the nose and throat and has been classified as nasal glioma. Even more unusual is heterotopic brain tissue in the nasopharynx. We were able to find only 17 previously reported cases. Of these 17 cases, 6 had heterotopic brain tissue located in a cleft palate. This report comments on the identification and treatment of heterotopic brain tissue associated with cleft palate without connection to the central nervous system. Our case subject is a 10-month-old girl diagnosed with heterotopic nasophranygeal brain tissue associated with cleft palate. RESULTS: Excision and palatoplasty were performed conjunctively with excellent results. CONCLUSIONS: Simultaneous excision of heterotopic nasopharyngeal brain tissue and palatoplasty of the cleft palate is an excellent option for treatment of these cases.     

Median palatine cyst: an unusual presentation of a rare entity.

Median palatine cyst is rare. Mostly, it is asymptomatic and usually is discovered incidentally during routine dental or radiological examination. The case that we report has the following unusual features: Firstly, it is the largest cyst to be reported, measuring 5 cm in diameter. Secondly, there was no swelling on the oral surface of the hard palate contrary to other reports. Rather, it caused elevation of the nasal floor and nasal obstruction. Thirdly, it pushed the inferior and caudal end of the septum into the left nasal chamber. The median palatine cyst was surgically removed by a sublabial degloving approach. The cyst was removed in toto and the palatal bone curetted to ensure adequate removal of any nesting cells that could lead to recurrence in the future.     

单侧完全性唇腭裂患者鼻腔通气情况的临床研究

目的:研究单侧完全性唇腭裂患者鼻腔通气情况与鼻腔内部畸形的相关性。方法:选取49例9~11岁年龄段单侧完全性唇腭裂患者作为研究组,选取对应年龄段的儿童牙科就诊的32例非唇腭裂患者作为对照组,应用鼻阻力检测仪测量分析其通气时的阻力大小,并与相应的鼻腔内部畸形的测量数据进行相关性分析。结果:49例患者中,鼻腔内部畸形的测量指标为鼻中隔偏曲,平均鼻中隔偏曲距离为(9.12±3.76)mm,偏曲角度为(20.8±2.7)°,单侧完全唇腭裂患者鼻中隔偏曲距离及偏曲角度均较对照组大(P<0.05)。唇腭裂组患者两侧鼻阻力值为(0.832±0.254)Pa/(s·cm^3);对照组两侧鼻阻力值为(0.627±0.167)Pa/(s·cm^3),唇腭裂组较对照组鼻阻力值增加(P<0.05)。鼻阻力值与鼻中隔偏曲的距离及偏曲角度呈正相关性(r=0.754、0.652,P均<0.001)。结论:单侧完全性唇腭裂患者继发较为严重的鼻腔内部畸形,会导致患者的鼻通气阻力增大。     

单侧唇腭裂外鼻软骨的外科解剖

为探讨单侧唇腭裂外鼻软骨的解剖异常与鼻畸形的关系，对６例单侧唇腭裂死婴的外鼻部进行解剖，发现患侧鼻翼软骨及鼻中隔软骨发生了组织错位，与鼻畸形的产生有明确的对应关系；统计学处理结果显示，健、患侧鼻翼软骨的大小差异无显著性。说明组织错位是单侧唇腭裂鼻畸形的病理解剖的基础之一。     

先天性牙槽粘连伴腭裂1例

口腔粘连是指上颌骨和下颌骨之间的纤维或软组织粘连,这些粘连可以出现在口腔的不同位置,牙槽粘连为其表现之一。牙槽粘连是一种罕见的先天性畸形,很少独立存在,常伴有其他先天性缺陷,如唇裂、腭裂、微小舌、小颌畸形或颞下颌关节异常,其中腭裂最为常见。现报道1例先天性牙槽粘连伴腭裂患儿,经过手术治疗后创口愈合良好,并讨论其病因及治疗。     

Plastic surgery considerations for holoprosencephaly patients

Holoprosencephaly (HPE) is considered the leading abnormality of the brain and face in humans and is frequently associated with a wide spectrum of specific craniofacial anomalies including mid-line facial clefts, cyclopia and nasal irregularities. A standard course of treatment has not been developed and management is symptomatic and supportive. In this work, the authors discuss the wide-ranging spectrum of HPE and propose surgical guidelines to provide more uniform and appropriate care to patients suffering from holoprosencephaly. Assessment of the patient's brain abnormality is essential in determining the extent and benefit of surgical intervention. The authors discuss a median straight-line repair of the lip and repair of the anterior palate in a one-year old female and review the risks and benefits of surgery. Consistent with the ethical approach of surgical beneficence, the authors recommend intervention at the earliest possible time.