Maxillofacial sequelar manifestations of Silverman's syndrome

The Silverman's syndrome or "child abuse syndrome" consist in several symptomes whose about 50% are maxillo-facial ones. These which are must often unknown at the initial stage, are responsible for an after effect syndrome, involving very significant nasal, oral, labial and buccal lesions. The anomalies of facial growth are the results of chronic lesions of cartilagenous septum and of nose bone area. A better understanding of this syndrome should held to diagnose it as quickly as possible. Indeed children are endangered by a lack of protective measures.     

Midline nasal dermoid sinus cyst in basal cell naevus syndrome (BCNS or Gorlin syndrome): A case report and review

Basal cell naevus syndrome is a rare hereditary autosomal dominant disease. We present the case of a three-year-old boy with the syndrome, associated with a nasal dermoid sinus cyst. Review of the literature revealed only one similar case of this syndrome with a nasal dermoid sinus cyst. PTCH1, the gene responsible for the disease in this case, is expressed in the neural tube of the developing embryo and mutations can lead to developmental anomalies. This fact combined with the knowledge that nasal dermoid sinus cysts are remains of an ectodermal extension of the dura, explains the association of Basal cell naevus syndrome with a nasal dermoid sinus cyst. We suggest that it should be adopted as a minor diagnostic criterion.     

Otolaryngological Manifestations of Velocardiofacial Syndrome: A Retrospective Review of 35 Patients

Objective Because many patients with velocardiofacial syndrome (VCFS) are first examined by otolaryngologists for ear or speech problems before being diagnosed with VCFS, we describe a series of patients with this genetic disorder, which is associated with multiple anomalies, including velopharyngeal insufficiency, cardiac defects, characteristic facial features, and learning disabilities. Study Design We retrospectively analyzed the medical charts and available nasoendoscopic observations for 35 patients who were diagnosed with VCFS and who had a microscopic deletion in chromosome 22q11 as shown by DNA probe and fluorescence in situ hybridization. Results For most patients, the medical chart documented cardiac anomalies, velopharyngeal insufficiency with hypernasal speech, and characteristic facial features including nasal, auricular, craniofacial, and ocular abnormalities. Incidence of middle ear infection with associated conductive hearing loss was also high and necessitated early placement of pressure equalization tubes. Some patients were treated with adenoidectomy for chronic otitis media; consequently, velopharyngeal insufficiency and hypernasal speech worsened. Nasoendoscopic examination as documented in the medical chart showed occult cleft palate, a small adenoid pad, and pulsation in the muscular wall. Conclusion Otolaryngologists have an important role in diagnosis and treatment of persons with VCFS and therefore should familiarize themselves with the typical history and most frequent head and neck manifestations of this syndrome.     

Sarcoidosis of the nose and paranasal sinuses

Sarcoidosis is a chronic systemic disease of unknown etiology characterized by non-caseating granulomatous inflammation of various organs. The records of 2319 patients with the diagnosis of sarcoidosis were reviewed to determine the incidence of nasal involvement. Seventeen patients or approximately 1% of the patients with sarcoidosis had histologically proven nasal mucosa involvement. These patients had symptoms of nasal crusting, congestion, epistaxis, pain, or anosmia. The clinical findings in these patients included friable nasal mucosa, nasal polyps, or a characteristic submucosal nodularity. Most patients also had abnormal sinus roentgenograms with either thickening of the sinus mucosa or opacification of the sinuses. Biopsy of the nasal mucosa shows typical non-caseating granulomas, but care must be exercised to exclude other causes of granulomatous inflammation of the nasal mucosa including tuberculosis, fungal infections, and other idiopathic granulomatous diseases such as Wegener's granulomatosis and Churg-Strauss syndrome. The treatment of nasal sarcoidosis has consisted of systemic steroids and in some cases topical beclomethasone dipropionate.     

Waardenburg's syndrome: a case report with CT scanning and cochleovestibular evaluation

The Waardenburg's syndrome, a congenital ectodermal germ layer defect of autosomal dominant inheritance with variable phenotypic expressivity consists of 6 major characteristics: dystopia canthorum, broad nasal root, hypoplasia of the medial eyebrow, heterochromia irides, white forelock, and congenital deafness. Twelve additional characteristics have been reported including meningocele, atresia of the esophagus, and Hirshsprung's disease supporting an early hypothesis that the neural crest is the embryonic site linking defects of the cervical sympathic system with pigmentary abnormalities and inner ear anomalies. Congenital deafness reported in 20% of Waardenburg patients, and the most disabling characteristic, has been associated with ENG abnormalities in 30% of these deaf patients. A congenitally deaf young person with Waardenburg's syndrome is examined for basic cause of episodic vertiginous symptoms. Diagnostic assistance from previous investigations is lacking because they have not involved state-of-the-art functional evaluations or correlations of behavioral and radiographic findings. In this patient, high-resolution computerized tomography failed to demonstrate bony labyrinthine anomalies. Functional cochleovestibular analysis revealed a bilateral profound sensorineural hearing loss and a unilateral weakness in oculomotor responses to caloric stimulations. Repeated measurements of ocular counterroll show variations compatible with intermittent otolithic dysfunctioning. These findings are consistent with a diagnosis of an acquired active unilateral peripheral vestibular disorder. Some of the technical issues underlying the derivation of this conclusion are discussed.     

Rosai-Dorfman disease revealed in the upper airway: a case report and review of the literature

Rosai-Dorfman disease (RDD) is a systemic disease and its etiology is not well understood. It is a very rare but established disease. We report a case of RDD diagnosed in the upper airway that became a life-threatening condition because of the stricture of the subglottic space. A 49-year-old female complained of nasal obstruction, hoarseness and lacrimation. After evaluation following by fiberscopic examination and CT scanning of the head and neck, sinusitis and laryngeal masses were detected. Endoscopic sinus surgery and endolaryngeal microsurgery were performed simultaneously. The masses in the nasal cavity and larynx showed the same histological findings. Proliferative large histiocytes with voluminous clear cytoplasm and rounded nuclei, and lymphophagocytosis known as emperipolesis are the characteristic features of RDD. In this case, extranodal manifestations in the subglottic space gradually emerged postoperatively. Tracheotomy was performed to ensure an airway and prevent suffocation. An extensive treatment is not required in most patients with RDD, however, some patients who have extranodal manifestations involving the airway may detoriorate into a life-threatening condition.     

Otolaryngologic manifestations of Down syndrome.

The DS patient has clear anatomic differences in the head and neck region when compared with the general population. These anomalies include a flat occiput, oblique palpebral fissures, epicanthal folds, speckled irides, a protruding tongue, prominent malformed ears, and a flat nasal bridge. Congenital otologic anomalies and acquired conditions such as otitis media are also more frequently observed in the DS population. The DS patient is predisposed to obstructive sleep apnea, and the diagnosis of sleep apnea in DS patients is more likely to be delayed. A child with DS who has a narrowed nasopharynx, large tongue, and a subglottis which is smaller than normal must be given special consideration at the time of intubation. Such a patient requires an endotracheal tube two sizes smaller than the standard size appropriate for the patient's age. The child should also be suspected of having and be evaluated for obstructive sleep apnea, to ensure that appropriate precautions are taken in the perioperative period. Finally, any DS patient undergoing preoperative evaluation for a general anesthetic should have a careful assessment of the cervical spine to avoid dislocation or spinal cord injury. Hearing loss may be suspected in any congenital syndrome. In DS, there is a clearly increased incidence of congenital temporal bone anomalies, external auditory canal stenosis, and otitis media. All DS patients should undergo hearing assessment in the neonatal period, with follow-up as appropriate. Aggressive treatment of conductive hearing loss and early amplification may be necessary to maximize speech and language development.     

Case report and surgical solution for nasal spine agenesis in a woman with Binder syndrome

Binder syndrome is an uncommon disorder of unknown etiology. It is characterized by hypoplasia of the nose and maxilla and altered morphology of the associated soft tissue. We report a 19-year-old Binder syndrome patient with short-nose deformity and anterior nasal spine agenesis. We present a surgical technique for nasal spine agenesis treatment. We used a titanium screw without a graft, which supported the nasal tip and increased tip projection. As there is good soft-tissue coverage over the screw, infection or extrusion was not encountered, and the patient had no complaints 1 year after surgery.     

Das DiGeorge-Syndrom/velokardiofaziale Syndrom in der Mund-, Kiefer- und Gesichtschirurgie

The DiGeorge syndrome/velocardiofacial syndrome is the most frequent chromosomal microdeletion syndrome. Partial deletion of chromosome 22q11 may lead to symptoms including facial dysmorphy, hypoparathyroidism, thymic aplasia, congenital heart disease, developmental retardation, and disturbance of speech development. According to the literature, 9% of patients have cleft palate, an additional 5% have a submucosal cleft, and a total of 32% show velopharyngeal insufficiency. We studied 64 children with a cleft, or with delayed speech development and a submucosal or occult cleft, for the presence of the 22q11deletion using fluorescent in situ hybridisation. Five patients had the 22q11 deletion. We conclude that patients presenting with nasal speech and additional anomalies should all be studied for the presence of submucosal or occult clefting and for the presence of the DiGeorge syndrome/velocardiofacial syndrome.     

A case of Klippel-Feil syndrome with congenital enlarged Eustachian tube

The Klippel-Feil syndrome is a congenital anomaly characterized by fusion of the cervical vertebrae. It is often associated with serious congenital anomalies of the nervous, cardiovascular and urogenital systems. One of the anomalies which have not been thoroughly investigated to date are that accompanying Klippel-Feil syndrome and enlarged Eustachian tube. We report a case of type III Klippel-Feil syndrome with associated rib anomalies such as hypoplastic and bifid ribs, scoliosis and elevated scapula (Sprengel's disease). The patient also presented hemifacial microsomia and central facial palsy of the lower right side of the face, urogenital and cardiovascular anomaly, congenital anorectal atresia and right-sided congenital aural atresia with microtia. Computer tomography of temporal bone showed abnormal extension of the right Eustachian tube with anomalies of the middle and inner ear on this particular side. In this case report we discuss the associated anomalies of the patient with Klippel-Feil syndrome. The aim of this case report is to draw attention to very rare case of patient with Klippel-Feil syndrome and enlarged pharyngotympanic tube.     

A devitalized tooth as a complication of septorhinoplasty

Complications of septorhinoplasty often involve adjacent structures, resulting in cosmetic as well as functional abnormalities. Dental complications of nasal surgery are rare. We describe a patient who underwent septorhinoplasty with a postoperative complication of a devitalized tooth. To our knowledge, this is the first report of such a dental complication. Bony manipulation in the region of the nasal spine may have resulted in the interruption of the neurovascular supply to the right central incisor, yielding a devitalized tooth. An aberrant vascular supply, or root apex situated high in the premaxilla, can predispose to dental injury while performing bony manipulation near the nasal spine. Preoperative evaluation of patients who are at risk for dental complications may allow the surgeon to safely achieve the functional and cosmetic goals of septorhinoplasty.     

鼻内镜下老年人顽固性鼻出血的微创治疗

目的探讨鼻内镜下微创治疗老年人顽固性鼻出血的方法及适应证。方法对32例老年人顽固性鼻出血患者鼻内镜下检查,明确出血部位,使用铬酸局部烧灼、明胶海绵局部填塞止血,回顾性分析出血部位、疗效及治疗方法的选择。结果全部病例可见鼻腔黏膜多处糜烂,出血部位最多见于嗅裂鼻中隔部11例,鼻中隔棘或嵴7例,下鼻道顶部7例,中鼻道4例,中鼻甲后端2例,蝶筛隐窝1例;7例鼻中隔偏曲有棘或嵴致出血者,同期鼻内镜下行鼻中隔偏曲成形术。单独使用铬酸止血16例,单独使用明胶海绵止血7例,联合应用铬酸和明胶海绵止血9例。全部病例1次治愈30例,2次2例,随访3个月无复发。无严重并发症。结论鼻内镜下精确定位出血点是实施微创局部烧灼或填塞止血的关键。     

PHACE syndrome: report of a case with a glioma of the anterior skull base and ocular malformations

PHACE syndrome consists of the constellation of manifestations including Posterior fossa anomalies of the brain (most commonly Dandy-Walker malformations), Hemangiomas of the face and scalp, Arterial abnormalities, Cardiac defects, and Eye anomalies. We present the case of a patient who presented with respiratory distress at birth secondary to a large nasal glioma. She was subsequently found to have a ventricular septal defect (VSD), a facial hemangioma, and a malformation of the eye and optic nerve head. The nasal glioma, which extended to the cribriform plate, has not been described in this syndrome. The tumor was resected through a coronal incision, midline nasal bone osteotomy, and a retrograde dissection from the nasal bones to the anterior skull base. Glioma of the skull base is a novel and serious manifestation of this uncommon condition.     

Tracheal anomalies in Pfeiffer syndrome

OBJECTIVE: To determine the types and frequency of airway anomalies in patients with Pfeiffer syndrome. DESIGN: Retrospective case series. SETTING: Academic tertiary care pediatric hospital. PARTICIPANTS: Eleven patients with Pfeiffer syndrome, 6 of whom were severely affected, were identified. All were included in the study. MAIN OUTCOME MEASURES: Presence of tracheal anomalies, need for tracheotomy, and length of life. RESULTS: The 6 severely affected patients had mutations in genes that code for fibroblast growth factor receptor 2 (S351C [3 patients]; C342S [2 patients]; and W290C [1 patient]). Five of these patients were diagnosed during bronchoscopy or tracheotomy as having a congenital tracheal cartilaginous sleeve. In 1 patient, supportive care was withdrawn at 2 weeks of life, and the patient died. The remaining 5 patients required tracheotomy because of severe upper airway obstruction. Three of these patients died (at ages 9 months and 7 and 15 years). Two are still alive at ages 23 and 18 months. CONCLUSIONS: Patients with Pfeiffer syndrome manifest significant airway pathologic conditions. Upper airway obstruction is related to midface hypoplasia and secondary nasal obstruction. Tracheal anomalies have been infrequently reported.     

Gardner syndrome. Maxillofacial management of an extremely advanced form]

Gardner's syndrome is a very rare hereditary disease resulting from an embryo genesis disorder involving all three ectodermal, mesodermal and endodermal layers. Generally non-digestive tract signs disclose the syndrome. Underlying silent digestive anomalies should be investigated. Endodermal anomalies may have a fundamental effect on prognosis. Manifestations in our case were severe, with ectodermal and mesodermal anomalies occurring late. Maxillofacial management was required because of the critical esthetic and functional implications.     

Binder's syndrome (maxillo-nasal dysostosis) and associated orthopedic malformations

The authors refer to cases of associated orthopedic malformations reported in 17 patients with Binder's syndrome. Aside from already known anomalies of the cervical spine detected in 58.8% of cases, finger malformations are found in one third of single X-chromosome carriers (boys or Turner's syndrome). This calls for studying these malformations in parallel with X-linked minor isolated recessive chondrodystrophy.     

Augmentation of the nasal spine area with tissue bone matrix sponge

OBJECTIVE: High-density tissue bone matrix (TBM) sponge is a homograft derived from human cadaver. It is reported to be osteoinductive. The objective of this paper is to measure the bone formation and cosmetic effect of TBM sponge implanted in the nasal spine area of patients undergoing rhinoplasty with retraction of this region and loss of nasal tip support. DESIGN: The study was designed as a prospective trial. SETTING: Patients were selected from private facial cosmetic practice and from public otolaryngology practice. PATIENTS: Six patients were selected who had retraction of the nasal spine area and loss of tip support. INTERVENTION: Patients had implantation of the TBM sponge in the nasal spine area either as a sole procedure or in conjunction with other rhinoplasty maneuvers. MAIN OUTCOME MEASURES: Palpation was used to assess position, size and consistency of the implant. Cosmetic effect was assessed by computer imaging, which was used to measure nasolabial angle and tip projection. Bone formation was assessed by computed tomography scanning. RESULTS: The implant could be palpated in all six patients at 1 month postoperatively, but at 3 months was either smaller or could not be felt. Nasolabial angle and tip projection were improved in all patients initially, but 3 months following surgery this cosmetic improvement was maintained in only two patients. At 3 months, CT scanning showed no evidence of bone formation. CONCLUSION: The TBM sponge was not found to be osteoinductive or permanent when implanted in the nasal spine area and therefore is not a good implant in that region.     

Woakes' syndrome and albinism

Nasal polyposis is a very common and multifactorial disease. Whereas eosinophil-dominated polyps often are sensitive to anti-inflammatory treatment like corticosteroids, the therapy of polyps without eosinophils is more difficult and disappointing. We report the clinical course of a 29-year-old albino patient suffering from a extreme manifestation of Woakes' syndrome, which is characterized by severe recurrent nasal polyps, often without eosinophils on histological examination and with broadening of the nose. In this case, the recurrent fibrotic polyps without eosinophils were resistant to conventional medical and surgical treatment and required further treatment with radiotherapy with awareness of all possible future sequelae. The pathoetiology and treatment of Woakes' syndrome as well as of albinism were discussed.     

Platelet-rich plasma injection for empty nose syndrome: A case report

Empty nose syndrome (ENS) is a relatively rare disease found in patients who have undergone sinonasal surgery, characterized by excessive reduction of the turbinate, causing intranasal turbulence and loss of receptors within the nasal mucosa. Patients diagnosed with the disease usually experience symptoms including dryness of the nose, nasal pain, paradoxical nasal obstruction, and crusts in the nasal cavity. ENS can be treated with conservative care such as nasal irrigation or nasal moisturizers. Accurate efficacy of surgical treatment of ENS is often difficult to predict and is accompanied by operational obstacles and complications. Platelet-rich plasma (PRP) has recently gained attention as a regenerative therapy in several medical fields. We present two cases of ENS treated by injection of PRP as a simple and less invasive method, and describe its efficacy with nasal endoscopy and subjective questionnaires.