Pediatric unilateral isolated choanal atresia is not associated with mandibular condyle hypoplasia.

PURPOSE: We hypothesized that the ontogeny of unilateral isolated choanal atresia involves a field defect manifesting as ipsilateral mandibular condylar hypoplasia. The topic is important because the mechanism of the unilateral isolated choanal atresia is unknown. MATERIALS AND METHODS: Retrospective self-controlled case series. We included 20 patients (2 males and 18 females, ages 2 weeks to 13 years) with unilateral isolated non-syndromic choanal atresia. We studied their high-resolution computed tomographic scans. Two otolaryngologists measured the largest cross-sectional area of the mandibular condyle in the axial plane perpendicular to the posterior border of each mandibular ramus independently. Statistical significance and inter-rater agreement were calculated with paired Wilcoxon rank sum test and Spearman's non-parametric correlation coefficient respectively. RESULTS: Cross-sectional areas of the condyles ipsilateral to the choanal atresia were not statistically different than those of the contralateral condyle (P = 0.27). Inter-observer agreement of condyle areas was excellent: Spearman's r = 0.85 on the right and r = 0.94 on the left. CONCLUSIONS: In this cohort of children with the rarity of isolated non-syndromic unilateral congenital choanal atresia, no associated mandibular condyle hypoplasia was found. The data suggest that the underlying ontogeny was unlikely attributable to a field defect.

Treacher Collins Syndrome with choanal atresia: a case report and review of disease features.

Treacher Collins Syndrome--or mandibulofacial dysostosis--is a rare condition that presents several craniofacial deformities of different levels. This is a congenital malformation involving the first and second branchial arches. Incidence is estimated to range between 1-40,000 to 1-70,000 of live births. The disorder is characterized by abnormalities of the auricular pinna, hypoplasia of facial bones, antimongoloid slanting palpebral fissures with coloboma of the lower eyelids and cleft palate. Treacher Collins Syndrome is rarely associated with choanal atresia. A multidisciplinary team, including craniofacial surgeon, ophthalmologist, speech therapist, dental surgeon and otorhinolaryngologist, is the most appropriate setting to manage these patients. This study reports a rare case of Treacher Collins Syndrome with choanal atresia, presenting literature review and multidisciplinary intervention.

Familial choanal atresia with maxillary hypoplasia, prognathism, and hypodontia.

We report on two sibs and a cousin with bilateral choanal atresia. At 2 months, one sib died of complications following surgical correction of her defects. We evaluated her brother and cousin at age 7 and 9 years, respectively. Both had a tall forehead, maxillary hypoplasia, prognathism, and absence of certain deciduous and permanent teeth. Psychomotor development was appropriate for age. Roentgenocephalometric analyses of several relatives showed that one grandfather of these children and two of the five uncles and aunts also had maxillary hypoplasia and/or prognathism. To our knowledge, this condition has not been described previously and may represent a newly recognized autosomal dominant condition with incomplete penetrance and variable expressivity caused by a defect of neural crest development.

Crouzonodermoskeletal syndrome.

Crouzon craniostenosis [MIM 123500], is identified on the basis of the additional phenotypical manifestations of acanthosis nigricans, vertebral changes and cementomas of the jaws. Choanal atresia and hydrocephalus are other features. The molecular defect in CDSS is a point mutation in the FGFR3 gene on chromosome 4p, whereas, the mutation in the Crouzon syndrome is in the FGFR2 gene at 10q25.3-26. An affected girl aged 2 years presented at the UWC dental genetics unit with a prior diagnosis of Crouzon syndrome. Choanal atresia had necessitated a permanent tracheostomy, and hydrocephalus was managed by a shunt operation. Clinical examination revealed acanthosis nigricans in the axilliary regions, a diagnosis confirmed by a biopsy of the lesion. Eruption of the primary dentition was delayed with only six out of twenty teeth present. Radiographic examination conducted shortly after birth revealed the presence of several tooth buds in both the maxillae and the mandible. The delayed eruption of the teeth will be of significance in future orthodontic and maxillofacial measures for the improvement of the patient's facial Crouzonodermoskeletal syndrome (CDSS) was separated from the classical appearance. Molecular investigations in the girl and her parents are underway. If the specific mutation in FGFR3 is observed, a positive diagnosis of CDSS will be confirmed and the status of her parents and other family members will be determined. On this basis, appropriate genetic management can be offered to the kindred.

[The application septonasal bidirectional mucoperiosteal flap in treatment of refractory choanal atresia in adults].

OBJECTIVE: To explore the effects of septonasal bidirectional mucoperiosteal flap in the treatment of refractory choanal atresia in adults. METHOD: Analysis of 9 cases for choanal atresia was conducted. Two cases were of congenital origin and 7 cases of acquired origin, which was a complication of radiotherapy for nasopharyngeal carcinoma. The patients received transnasal endoscopic surgery using the septonasal bidirectional mucoperiosteal flap, without positioning the postoperative expansion tube. After the operation, the changes of symptoms were observed and the recurrent rate of restenosis or atresia was investigated in the follow-up time. RESULT: The symptoms of nasal obstruction and mouth breathing improved significantly in the 9 patients. At an average follow-up time of 19.3 months, the new forming posterior nare remained patent. The mucoperiosteal flap had no shift or necrosis. No restenosis or atresia happened. Nasal adhesion occurred in two patients. Granulation tissue hyperplasia was found in 1 patient, who underwent endoscopic revision without recurrence. CONCLUSION: The application of mucoperiosteal flap in transnasal endoscopic surgery for the choanal atresia can reduce the incidence of restenosis or atresia. Postoperative expansion tube is not mandatory.

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.