Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis.

We present the case of a male who shortly after birth developed acute respiratory distress due to bilateral choanal atresia, following which he was found to have rectal stenosis. Genetic testing for CHARGE syndrome was negative, but whole genome sequencing identified heterozygosity for a pathogenic missense variant in TP63 (c.727C > T, p.(Arg243Trp). He also has partial cutaneous syndactyly of the third and fourth fingers of the right hand, and bilateral lacrimal duct stenosis/aplasia. A later maxillofacial review identified a palpable submucousal cleft and his scalp hair is blond and slightly sparse. Choanal atresia and rectal stenosis are recognized features of ectrodactyly-ectodermal dysplasia-clefting syndrome, but we believe this is the first report of a case presenting with these features in the absence of the cardinal features.

FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.

Structural maintenance of chromosomes flexible hinge domain-containing 1 (Smchd1) plays important roles in epigenetic silencing and normal mammalian development. Recently, heterozygous mutations in SMCHD1 have been reported in two disparate disorders: facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS). FSHD2-associated mutations lead to loss of function; however, whether BAMS is associated with loss- or gain-of-function mutations in SMCHD1 is unclear. Here, we have assessed the effect of SMCHD1 missense mutations from FSHD2 and BAMS patients on ATP hydrolysis activity and protein conformation and the effect of BAMS mutations on craniofacial development in a Xenopus model. These data demonstrated that FSHD2 mutations only result in decreased ATP hydrolysis, whereas many BAMS mutations can result in elevated ATPase activity and decreased eye size in Xenopus Interestingly, a mutation reported in both an FSHD2 patient and a BAMS patient results in increased ATPase activity and a smaller Xenopus eye size. Mutations in the extended ATPase domain increased catalytic activity, suggesting critical regulatory intramolecular interactions and the possibility of targeting this region therapeutically to boost SMCHD1's activity to counter FSHD.

[Advances in treatment of congenital posterior choanal atresia].

Congenital posterior choanal atresia is a rare congenital deformity. Due to the influence of nose and face and intellectual development, its preferred surgical treatment. But surgical treatment methods and technology are in dispute. The using of high resolution display systems combine with micro tools can effectively reduce postoperative scarring and adhesion formation which is the key point to prevent restenosis. There is also the focus of controversy whether should place an expansive tube after operation. Currently nasal endoscopic approach has become the first choice for otolaryngologist treating congenital posterior choanal atresia.

Choanal atresia: histochemical, immunohistochemical and ultrastructure study of the nasal mucosa.

OBJECTIVES: To study the nasal mucosal changes in cases with choanal atresia at the light and electron microscope and to compare the results with the normal side in unilateral cases. STUDY DESIGN: Cross sectional study. SETTING: Tertiary University hospital, departments of Otolaryngology and pathology. METHODS: Sixteen patients diagnosed to have choanal atresia (seven bilateral and nine unilateral); ranging in age from 3 days to 9 years; were included in this study. During surgical repair, a biopsy of the inferior turbinate mucosa was taken. Biopsy from patent side in unilateral choanal atresia was also taken (as a control). Then biopsies were subjected to histopathological, histochemical, immunohistochemical and ultrastructure studies. RESULTS: The nasal mucosa in choanal atresia side (weather unilateral or bilateral) showed distorted cilia, marked increase of mucous submucosal glands associated with marked reduction of goblet cell density and lymphocytic cellular infiltration. The patent side (control) showed normal respiratory epithelium with obviously noted intra-epithelial goblet cells. Submucosal glands were less in number and activity than in the atretic side. CONCLUSIONS: Choanal atresia showed a condition of the nasal mucous membrane with characteristic excessive nasal tenacious secretion; mostly actively secreted besides some effect of lack of drainage due to interrupted cilia. Further studies are required to evaluate the impact of atresia repair on detected features.

[Unilateral choanal atresia: a missed diagnosis].

Bilateral choanal atresia is a congenital anomaly usually diagnosed at birth. In contrast, unilateral atresia causes variable degrees of nasal stuffiness and discharge that might mask the diagnosis and delay the proper treatment. We present five cases of unilateral atresia in which the correct diagnosis was delayed and erroneous treatments were instituted--two adults who had undergone unnecessary septal and turbinate surgery, two older children who were treated medically and one patient who was treated for epiphora. Insufficient awareness of this entity occurring in adults and older children and other possible causes of diagnostic error are discussed. A unilateral mucoid or watery rhinorrhea and obstruction, that lasts from early childhood without evidence of sinusitis and not responding to any medical treatment, should alert the physician to consider unilateral atresia and to perform endoscopic and computed tomography examinations at an early age. Careful interpretation of the computed tomography scan including the axial planes is required.

Atresia de coanas, tratamiento quirúrgico endoscópico, 5 años de experiencia / Choanal atresia, endoscopic surgical repair, a 5 year experience

Atresia de coanas es la obstrucción congénita de la región posterior de las fosas nasales. Múltiples técnicas quirúrgicas han sido empleadas para su reparación. En el presente estudio se recopiló la información de 5 años de trabajo en el Hospital Universitario del Valle en la ciudad Santiago de Cali - Colombia, entre los años 2003 y 2008. Se obtuvo un total de 16 casos.La información demográfica documentada incluyó datos como edad, sexo, síntomas iniciales, método diagnóstico, lateralidad, tipo de atresia de coanas, comorbilidades, tratamiento inicial, edad de intervención quirúrgica, técnica quirúrgica usada. La técnica quirúrgica consistió en el fresado y apertura de la placa atrésica vía endoscópica transnasal utilizando taladro, previa realización de colgajos mucosos en cruz y resecando parcialmente paredes del vómer.La experiencia observada en estos 5 años de trabajo demuestra que el abordaje endoscópico transnasal presenta grandes ventajas, entre ellas la baja tasa de reestenosis.

Choanal atresia is a congenital disorder where the back of the nasal passage is blocked. Many surgical techniques have been used to repair this disorder. In this study we collected information from 5 years of work at the Hospital Universitario del Valle in the city of Santiago de Cali - Colombia, between 2003 and 2008. A total of 16 cases were obtained. The documented data included demographic information like age, sex, initial symptoms, diagnostic methods, laterality, type of atresia, comorbilities, initial treatment and surgical technique used. The surgical technique consisted in endoscopic opening of the atretic plate using drill. Mucosal flaps and resection of partial plate of vomer were made previously.The experience observed in these 5 years of work shows that the endoscopic transnasal approach has major advantages, including low restenosis rate.

Transnasal endoscopic repair of acquired posterior choanal stenosis and atresia.

BACKGROUND: There are congenital and acquired choanal atresias and many approaches have been used for their repair. We assessed the clinical effect of power instrument, endoscopic repair of acquired choanal stenosis and atresia. METHODS: Nineteen patients, aged from 32 to 61 years, with acquired choanal stenosis and atresia (from trauma in 5 cases and from radiotherapy after nasopharyngeal carcinoma in 14; 6 bilateral and 13 unilateral cases), underwent transnasal endoscopic repair of choanal stenosis and atresia. No patient had stenting. Antibiotic and local glucocorticoid were administered postoperatively. RESULTS: Eighteen patients remained free of symptoms for 12 - 40 months after the surgery, and the diameter of the neochoana was more than 1 cm after the procedure. One patient required revision surgery and recovered completely with no restenosis at 12 months after the second surgery. There were no postoperative complications. Histology of the resected tissue revealed respiratory epithelial-lined stromal tissue with chronic inflammation, edema and fibrosis, but no tumor cells. CONCLUSIONS: Transnasal endoscopic approach is a useful procedure for the repair of acquired choanal stenosis and atresia: it is highly successful, safe and effective with swift recovery and short time of hospitalization. It is very important in postoperative care to remove any granulation or polyps at the site of the neochoana at that time.

Refractory choanal atresia: what makes a child susceptible? The great Ormond Street Hospital experience.

OBJECTIVE: An outcome analysis of factors that predispose patients to require multiple surgical procedures for choanal atresia repair. DESIGN: Retrospective case note review of choanal atresia patients identified from a prospectively collected database at Great Ormond Street Hospital for Children, London, between 1992 and 2005. SETTING: Specialist centre in pediatric otolaryngology. METHODS: All patients underwent atresia correction by a transnasal approach under endoscopic guidance using a 120 degrees Hopkins rod telescope to visualize the posterior choanae from the nasopharynx. The atretic plate was first perforated using urethral sounds. The posterior choanal opening was subsequently enlarged using the microdebrider drill. Portex endotracheal tubes were used as stents in selected cases. RESULTS: Twenty children (9 male, 11 female) were identified who underwent multiple surgical procedures for restenosis following choanal atresia repair during the study period. The number of procedures per patient ranged from 6 to 42. Approximately half of the patients had other associated major anomalies. CONCLUSIONS: Following primary endoscopic transnasal repair, 9.8% of the patients were considered to have refractory choanal atresia, requiring six or more surgical procedures. Male gender, bilateral disease, associated congenital anomalies, low birth weight, and small stent size are potential risk factors for restenosis of choanal atresia. There was no obvious relationship between the duration of stent placement and restenosis.

Ausência de fluxo aéreo nasal e desenvolvimento dos seios maxilares / Absence of nasal air flow and maxillary sinus development

Os mecanismos responsáveis pelo desenvolvimento dos seios paranasais ainda são pouco conhecidos, o fluxo aéreo nasal segundo uma das teorias propostas seria fundamental ao crescimento e desenvolvimento saudável dos seios paranasais. OBJETIVO: Estudar comparativamente o desenvolvimento dos seios maxilares e a presença de sinusopatia, em um mesmo modelo, na ausência e presença de fluxo aéreo nasal posterior. MATERIAL E MÉTODOS: Estudo retrospectivo transversal de uma série de casos; os exames tomográficos pré-operatórios de 7 pacientes com atresia coanal unilateral, idade média 16.28 anos (± 5,024). Este estudo realizado em um hospital terciário, com pacientes que passaram neste serviço entre os anos de 1994 e 2004. A área dos seios maxilares foi medida com auxílio do programa Auto-Cad. Utilizou-se o teste de Kruskal-Wallis para análise estatística. RESULTADOS: Nesse estudo observou-se seios maxilares simétricos e até mesmo maiores no lado da atresia coanal em 85,71 por cento dos casos, não houve diferença estatística significativa entre os dois lados comparados. Não se observou sinais de tomográficos de sinusopatia neste grupo de pacientes. CONCLUSÃO: Os achados aqui apresentados contrariam a teoria difusamente aceita sobre o papel do fluxo aéreo nasal na saúde e no desenvolvimento das cavidades paranasais.

Paranasal sinuses development mechanisms are not well known. Nasal air flow, according to one of the proposed theories, would be fundamental to the growth and healthy development of paranasal sinuses. AIM: The aim of this study was to evaluate the maxillary sinus growth and health in the presence and absence of postnasal air flow through a unique model. MATERIALS AND METHODS: Retrospective study of a series of cases; preoperative CT scans of 7 patients with unilateral choanal atresia, average age was 16.28 years (± 5.024). This study was done in a tertiary hospital, with patients treated between 1994 and 2004. The area of the maxillary sinuses was measured with the aid an Auto-Cad software. Kruskal-Wallis test was used in the statistical analysis. RESULTS: Symmetrical or even bigger maxillary sinuses were found in the same side of the choanal atresia in 85.71 percent of the cases. There was no significant statistic difference between compared sides. CT Scan signs of sinus disease were not seem in these patients. DISCUSSION: These findings oppose the commonly accepted theory about the role of nasal air flow in health and development of paranasal cavities.

[Transnasal endoscopic approach in choanal atresia]. / Koanal atrezide transnazal endoskopik yaklasim.

OBJECTIVES: The aim of surgery for choanal atresia is to remove the atretic plate completely and to assure long-term patency. We evaluated the effectiveness and results of endoscopic transnasal approach in the treatment of choanal atresia. PATIENTS AND METHODS: The study included eight patients (1 male, 7 females; mean age 25.8 years; range 17 to 53 years) who were treated with endoscopic transnasal approach for choanal atresia. One patient had bilateral involvement. The diagnosis was based on findings of physical examination, endoscopic examination, and computed tomography. The follow-up period ranged from 10 months to four years. RESULTS: Only one patient developed partial obstruction which was reconstructed with mushroom-head forceps at a subsequent operation. One patient died from primary disease (nasopharyngeal cancer). The remaining patients became symptom-free. CONCLUSION: Endoscopic transnasal approach for the treatment of choanal atresia is a safe procedure, with a high success rate and low morbidity, enabling detailed evaluation of the anatomic structure.

Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review.

We describe a family with lacrimo-auriculo-dento-digital syndrome (LADD). A 13-year-old boy had cup-shaped ears, deafness, unilateral choanal atresia, bilateral nasolacrimal duct obstruction, xerostomia, alacrima due to congenital absence of lacrimal glands, agenesis of salivary glands, chronic dacryocystitis, keratoconjunctivitis sicca, ptosis, nail dysplasia of the thumb, shortness of fifth toe, temporal bone abnormality and epilepsy. His younger sister had shortened middle phalanx of fifth digits. His middle sister had hypodontia, shortened distal phalanx of fifth digit, agenesis of salivary glands, mild hearing loss and exotropia. His older sister had left nasolacrimal duct obstruction and aplasia of both parotid glands. The oldest sister had hypodontia and divergent excess exotropia. His mother had hypodontia. These findings are consistent with LADD syndrome. An autosomal dominant pattern of inheritance with variable expressivity has been demonstrated. Renal and uro-genital anomalies have been noted variably.

Síndrome de Treacher Collins com atresia coanal: relato de caso e revisão de suas características / Treacher Collins syndrome with choanal atresia: a case report and review of disease features

A Síndrome de Treacher Collins ou disostose mandibulofacial apresenta-se com deformidades crânio-faciais, tendo expressão e severidade variável. É uma malformacão congênita que envolve o primeiro e segundo arcos branquiais. A Síndrome de Treacher Collins é rara e sua incidência está estimada em uma faixa de 1:40000 a 1:70000 nascidos vivos. Esta síndrome é caracterizada por anormalidades dos pavilhões auriculares, hipoplasia dos ossos da face, obliqüidade antimongolóide das fendas palpebrais com coloboma palpebral inferior e fissura palatina. A Síndrome de Treacher Collins raramente está associada com atresia coanal. Estes pacientes são apropriadamente acompanhados por uma equipe multidisciplinar que inclui cirurgiões crânio-faciais, oftalmologistas, fonoaudiologistas, cirurgiões dentistas e otorrinolaringologistas. Relatamos neste artigo um caso raro de Síndrome de Treacher Collins com atresia coanal, uma revisão da patologia e intervencão multidisciplinar.

Disorders of the pharynx.

Pharyngeal disorders are complex and difficult to treat. Disorders that lead to anatomic derangement, such as trauma and neoplasia, can significantly affect the function of this organ. Pharyngeal dysfunction can manifest as dysphagia, persistent palatal displacement, or exercise intolerance. Secondary complications are serious and life threatening and include aspiration pneumonia, weight loss, and death. Pharyngeal disorders that are only recognizable during strenuous exercise are difficult to diagnose and are treated with limited success, even though they are responsible for significant economic losses with performance animals.

Endoscopic treatment of congenital choanal atresia.

This report outlines the effectiveness of the transnasal endoscopic approach for the treatment of congenital choanal atresia. Fourteen patients with age between 5 days and 15 years were treated using this approach by means of 0 and 30 degrees 4 or 2.7 mm telescopes: three cases were bilateral while 11 were unilateral. The time of stenting ranged from 3 to 6 days (mean 4 days) in the three newborn patients and between 1 and 2 weeks (mean 1 week) in the other nine patients. In the last two cases, stenting was not carried out. The overall follow-up period ranged from 2 to 64 months (mean 31 months). Only one restenosis was observed in this series 2 months after surgery. This restenosis was successfully treated by endoscopic revision. The authors believe that a correct repositioning of mucosal flaps after the resection of the atretic plate is of paramount importance in avoiding restenosis of the neochoana and in reducing the time and/or the use of stenting.

[Choanal atresia: therapeutic management and results in a series of 58 children]. / Atrésie choanale: orientations thérapeutiques et résultats sur une série de 58 enfants.

INTRODUCTION: An error of table being slipped during the publication of this article in number 1 (2003), the Review republishes it in entirety for a better comprehension. The preceding reference must be replaced by this one: Rev Laryngol Otol Rhinol 2003;124,3:139-143. OBJECTIVES: To assess and compare long term results after surgical correction (transnasal or transpalatine approaches) of unilateral or bilateral choanal atresia, in children with or without associated anomalies. PATIENTS: During a 13-year period, 58 children were included in this retrospective study. Seventy-five choanas were operated on (41 unilateral and 17 bilateral). The transpalatine approach was performed in 41 children (56 choanas) while the transnasal approach was performed in 17 patients (19 choanas). Associated anomalies were reported in 28 children and corresponded to CHARGE association in 13 cases. RESULTS: With a mean follow-up of 7 years, perfect choanal permeability was reported in 90% of children operated on through a transpalatine approach and in 76% of children with a transnasal approach. A complementary therapeutic procedure was required in 54% of transpalatine approaches and 46% of transnasal approaches to yield these results. Postoperative choanal permeability was obtained in 93% of children without an associated anomaly and in 77% of those with associated anomalies, such as in 88% of unilateral atresias and 80% of bilateral ones. CONCLUSION: Initial success rate after surgery is similar for all surgical procedure insofar as nearly half choanas required a complementary therapeutic procedure. The endonasal procedure using the microdebrider appears hopeful and the KTP laser is interesting in fibrous residual stenosis. Associated anomalies are factors which lower general prognosis while inducing a higher surgical failure rate.

Transnasal endoscopic treatment of choanal atresia without prolonged stenting.

OBJECTIVE: To analyze the outcome of transnasal endoscopic repair of choanal atresia (CA) in children without prolonged nasal stenting after surgery. DESIGN: Retrospective study. SETTING: Academic tertiary care children's hospital. PATIENTS: Forty children aged 3 days to 15 years (mean age, 41 months) who presented with unilateral (n = 26) or bilateral (n = 14) CA and underwent surgery between August 1996 and December 1999. INTERVENTION: All children underwent transnasal endoscopy with telescopes, endoscopic instruments, and a microdebrider. Nasal tubes in neonates or infants and nasal packing in older children were always removed after 2 days. Systematic revision endoscopy was performed with the patients under local or general anesthesia on days 6 to 10. All patients were then clinically and endoscopically monitored for nasal obstruction and healing during a mean follow-up period of 18 months. RESULTS: There were 16 patients with associated malformations, including 6 cases of CHARGE association (a malformative syndrome that includes coloboma, heart disease, CA, retarded development, genital hypoplasia, and ear anomalies, including hypoplasia of the external ear and hearing loss), and 14 patients (9 with bilateral CA) with a history of previous choanal surgery (4 transnasal, 4 laser, and 6 transpalatine). Postoperatively, 32 patients (80%) had normal nasal patency and a satisfactory choanal diameter, and 8 (20%) had restenosis or complete choanal closure. Six underwent a second procedure, with success. The results in all children who had been previously treated with laser or transpalatine surgery were successful. The last patient, who presented with severe Treacher Collins syndrome, is still tracheotomized. There were no significant postoperative complications. One patient died of congenital cardiopathy 6 months after surgery. CONCLUSIONS: Transnasal endoscopic repair of CA is a safe and successful technique. The use of powered instrumentation and routine postoperative revision endoscopy seems to avoid prolonged nasal stenting.

Temporal bone histopathology in CHARGE association.

Three temporal bones obtained at autopsy from 2 patients with CHARGE association (Coloboma, congenital Heart disease, Atresia of choanae, mental Retardation and/or central nervous system anomalies, Genital hypoplasia, and Ear anomalies) were examined histopathologically. Both temporal bones from 1 patient showed multiple anomalies in the middle ear, inner ear, and facial nerve. However, the temporal bone obtained from the other patient showed almost normal structures in the inner ear, middle ear, and eustachian tube. These results are different from those of 2 previous reports of temporal bone histopathology regarding CHARGE association. This difference suggests that CHARGE association may arise not from one etiopathogenetic factor, but from complex factors. Special attention to dehiscent facial canal and perilymphatic gusher during otologic surgery in patients with CHARGE association is discussed.

Costello syndrome: report of a new case with choanal atresia and fatal outcome.

We describe a girl with motor and mental retardation, macrocephaly, a "coarse" face, choanal atresia, postnatal feeding difficulty, redundant skin with deep palmar and plantar creases, and histopathological evidence of altered elastic fibers, who died at the age of 11 months. We believe this represents another case of Costello syndrome. Lacking papillomata, she had choanal atresia and underwent a fatal outcome at an early age. The differential diagnosis of cutis laxa in association with postnatal growth retardation and developmental delay and with cardio-facio-cutaneous and Noonan syndromes is discussed.