Choanal atresia occurs in about 1 in 5000 births and is associated with other structural and genetic abnormalities. Choanal atresia is usually diagnosed postnatally due to respiratory distress, and rarely diagnosed antenatally. Here, a woman with severe polyhydramnios is described, whose fetus was diagnosed antenatally with isolated bilateral choanal atresia, as evident by persistent absence of flow through the nostrils on ultrasound. A literature review is presented of the antenatal findings of choanal atresia, using ultrasound and other imaging modalities. An association of choanal atresia with polyhydramnios should be considered. Examining flow through the fetal nose, using color Doppler, might aid in diagnosing choanal atresia. If this condition is suspected, a detailed ultrasound scan should be done to rule out other anomalies. Fetal magnetic resonance imaging has been suggested as an additional imaging tool in selected patients. Genetic counselling and invasive prenatal testing should be offered.

We report a rare case of complete isolation of the left innominate artery in a child with CHARGE (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities) syndrome. This anatomical cluster had been undetected for a relatively large period of time and the patient was referred to us with an incomplete diagnosis even after multiple medical evaluations and a thoracic surgery during the neonatal period. In conclusion, to the best of our knowledge, this is the first case of a complete isolation of left innominate artery treated with a transcatheter approach.

Choanal atresia is the most common congenital anatomical abnormality of the nasal cavities, manifested with a clinical picture of neonatal respiratory distress. The treatment requires interdisciplinary management based mainly on tertiary referral centre experiences. However, there is a lack of high-quality evidence in the available literature. Recommendations were prepared based on a systematic review of the supporting literature: on a website survey addressed to the participating authors consisting of 28 questions and on five live meetings. The initial response to the recommendations was determined at their presentation at the sectional meeting of the section for otorhinolaryngology of the Slovenian Medical Association. Then, reactions from the professional public were accepted until the recommendations were presented at the Expert Council for Otorhinolaryngology of the Slovenian Medical Association. A systematic literature review identified eight systematic reviews or meta-analyses and four randomized controlled clinical trials. Thirty-four recommendations for diagnosis, treatment and postoperative management were consolidated. The paper presents the proposal and first Slovenian recommendations for treating patients with choanal atresia. They are based on foreign medical institutions\' published literature and our clinical experience. They represent the basic requirements of diagnostics and may represent an essential guide in treatment.

CHARGE syndrome (OMIM #214800) is a phenotypically complex genetic condition characterised by multi-system, multi-sensory impairments. Behavioural, psychological, cognitive and sleep difficulties are not well delineated and are likely associated with biopsychosocial factors.
This meta-analysis investigated the prevalence of clinical features, physical characteristics and conditions, behavioural, psychological, cognitive and sleep characteristics in CHARGE syndrome, and statistically evaluated directional associations between these characteristics. Pooled prevalence estimates were calculated using reliable, prespecified quality weighting criteria, and meta-regression was conducted to identify associations between characteristics.
Of the 42 eligible studies, data could be extracted for 1675 participants. Prevalence estimates were highest for developmental delay (84%), intellectual disability (64%), aggressive behaviour (48%), self-injurious behaviour (44%) and sleep difficulties (45%). Meta-regression indicated significant associations between intellectual disability and choanal atresia, intellectual disability and inner ear anomalies, sleep difficulties and growth deficiency, and sleep difficulties and gross motor difficulties.
Our comprehensive review of clinical features, behavioural, psychological, cognitive and physical characteristics, conditions and comorbidities in CHARGE syndrome provides an empirically based foundation to further research and practice.

Choanal atresia is a rare congenital airway malformation that presents a unique surgical challenge for pediatric otolaryngologists. Here we report two classic cases of choanal atresia and examine the surgical approaches to this entity. The first case was a four-day-old female with a history of CHARGE syndrome and bilateral mixed membranous and bony choanal atresia confirmed by a CT scan. After undergoing transnasal endoscopic repair, choanal stents were placed for four weeks, and the patient was seen three months postoperatively and found to be doing well with no respiratory concerns. The second case involved a healthy three-year-old female presenting with unilateral combined membranous and bony atresia. Following successful endoscopic repair, she was seen at a three-month follow-up with no signs of restenosis. Additionally, a literature review was performed to evaluate updates since the 2012 Cochrane Review on surgical treatment of congenital choanal atresia.

BACKGROUND: Bilateral choanal atresia requires prompt surgical intervention. Surgeons have historically used stents in the repair process, however their efficacy has come into question in recent years. We performed a systematic review to investigate, primarily, whether stents enjoy more favourable outcomes compared to stentless repair. We also explored the use of operative adjuncts, such as steroids, antibiotics, mitomycin C and KTP laser.
METHODS: We performed a search of the Medline and Embase databases using a search strategy developed with the assistance of an academic librarian. Only full peer reviewed articles were included. Abstracts, posters, case reports and proceedings of academic conferences were excluded.
RESULTS: We identified 48 unique articles for inclusion, composed of a meta-analysis, two randomised control trials and 45 case series. Pooled analysis of the two randomised control trials yielded no statistically significant difference in choanal patency between stented and stentless repair, but a statistically significant reduction in complications, specifically granulation tissue formation, was found in stentless repair. Data from case series were, overall, of mixed quality, making factors contributing to successful outcomes difficult to elucidate.
CONCLUSIONS: Overall, there is a lack of high quality evidence to support the use of either a stented or stentless approach to bilateral choanal atresia repair, however stentless repair may experience fewer complications. Operative techniques, such as the use of mucosal flaps, are worthy of future study. Authors call for future high quality randomised control trials to investigate this uncommon but important condition.

Although the prognosis of CHARGE syndrome can be highly variable from mild until severe, final diagnosis is difficult to establish in utero. The aim of our study is to compare antenatal and postnatal findings in a retrospective cohort of 10 successive patients with a positive CHD7 gene variant in order to identify the specific prenatal features for CHARGE syndrome diagnosis. Fetal ultrasound, follow-up and supplementary investigations are collected and compared to postnatal findings. Congenital heart defect (7/10), choanal atresia (7/10) and tracheoesophageal atresia (4/10) are the most frequent fetal anomalies found. Inner and external ear anomalies appear as the keystone (constant features) for prenatal diagnosis of CHARGE syndrome in fetuses with multiple anomalies and normal microarray karyotype. External ear malformations are identified in all cases by 3D ultrasound when carefully evaluated. MRI and temporal bone CT-Scan are second line useful tools to assess the diagnosis when looking for semicircular canal agenesis, arhinencephaly and/or choanal atresia. Before availability of prenatal exome sequencing in clinical routine, present findings lead to the recommendation that fetuses, with congenital heart defect (mainly septal and conotruncal), cleft lip/palate or unexplained polyhydramnios should carefully be screened for clues suggesting CHARGE syndrome using 2D and 3D ultrasound, MRI and temporal bone CT-Scan. When CHARGE syndrome is suspected with normal molecular karyotype, CHD7 gene sequencing must be offered.

UNASSIGNED: To describe a single institution\'s experience with the use of steroid-eluting stents after endoscopic transnasal repair of choanal atresia.
UNASSIGNED: A case series with review of children who underwent choanal atresia repair at a tertiary children\'s hospital from June 2017 to January 2018 was performed. Those who had a mometasone drug-eluting stent (Propel® Mini, Intersect ENT Inc., Palo Alto, CA) placed after primary or secondary choanal atresia repair at our institution were included. The primary outcome measure was need for revision surgery due to stenosis. Postoperative regimens, duration of stenting, and need for return to the operating room (OR) were also assessed.
UNASSIGNED: Five patients with a median age of 22 months at the time of repair met inclusion criteria. Two (40%) had bilateral atresia and 3 (60%) had confirmed CHARGE syndrome. A total of 6 mometasone drug-eluting stents were used in the 5 cases. Three patients were reassessed at least once in the OR; however, the majority (57.1%) of postoperative evaluations were able to be performed in the office or bedside setting. The first and last evaluations occurred a mean of 14 and 124 days after surgery, respectively. There were no instances of restenosis, repeat surgical interventions, or stent-related complications noted.
UNASSIGNED: Placement of a mometasone drug-eluting stent is a promising method to improve postoperative results and management of choanal atresia repair by limiting the need for repeat anesthetics and OR procedures, as well as the complications of traditional stents.

BACKGROUND: CHARGE syndrome (CS) is a rare genetic condition (OMIM #214800). The condition has a variable phenotypic expression. Historically, the diagnosis of CHARGE syndrome was based on the presence of specific clinical criteria. The genetic aetiology of CS has since been elucidated and attributed to pathogenic variation in the CHD7 gene (OMIM 608892) at chromosome locus 8q12.
METHODS: A South African female of mixed ancestry heritage, aged 4 years, was referred for dental assessment to the Faculty of Dentistry, University of the Western Cape, in 2018. She had a diagnosis of CHARGE syndrome confirmed by a Medical Geneticist from the Division of Molecular Biology and Human Genetics at the University of Stellenbosch. The patient had a long prior history of health and developmental problems, with the correct diagnosis becoming apparent over time. She presented with many oral and craniofacial features warranting consideration by the dentist including micrognathia, hypoplastic nasal bones, cranial nerve dysfunction, bruxism, craniofacial anomalies and compromised sensory perception. The treatment was mainly preventive and, although she fed through a percutaneous endoscopic gastrostomy tube (PEG), maintenance of her oral hygiene was necessitated.
CONCLUSIONS: CS is a multisystem condition and the optimal care for an individual is with a specialist multidisciplinary team. The numerous systemic problems affecting these individuals take precedence in their care, and often there is neglect of their dental concerns. Given the abnormalities frequently present in the oral and craniofacial region, the authors recommend that a team of dental and other medical specialists be involved in the management of individuals with CS.

The common ocular manifestations of CHARGE syndrome include colobomatous defects in the eye, strabismus, nystagmus, and micropthalmia. Lacrimal drainage anomalies have been rarely reported and to the best of the authors\' knowledge, only 5 such cases have been reported earlier. The present case describes CHARGE syndrome associated with bilateral complex congenital nasolacrimal duct obstruction with multiple prior attacks of acute dacryocystitis and left lower punctal agenesis, successfully managed with a right-sided dacryocystorhinostomy and awaiting a left dacryocystorhinostomy.Lacrimal drainage anomalies in CHARGE syndrome include complex CNLDO, punctal agenesis, and acute dacryocystitis.