After birth, an alpaca cria was noticed to exhibit weakness and respiratory distress, particularly when attempting to suckle milk from the dam\'s udder. Clinical findings indicated the presence of bilateral choanal atresia and the animal was subsequently euthanised. A computed tomography scan and a pathological examination were performed to describe the malformation in detail. Choanal atresia is a common malformation in neonatal South American camelids, surgical treatment is not recommended. This case report provides an overview of the clinical findings as well as the results of imaging and pathologic examinations and may help to raise awareness of this malformation for early recognition.
Ein Alpakacria fiel nach der Geburt mit Schwäche und Atemnot, insbesondere bei den Versuchen, am Euter der Stute zu trinken, auf. Klinische Befunde deuteten auf das Vorhandensein einer bilateralen Choanenatresie hin, das Tier wurde daraufhin euthanasiert. Eine computertomografische und eine pathologische Untersuchung wurden durchgeführt, um die Missbildung genauer zu beschreiben. Choanenatresie ist eine häufige Missbildung bei neugeborenen Neuweltkamelen, eine chirurgische Therapie wird nicht empfohlen. Dieser Fallbericht gibt einen Überblick über klinische, bildgebende und pathologische Befunde und kann so dazu beitragen, das Bewusstsein für diese Fehlbildung zu schärfen, um sie schnell zu erkennen.

Choanal atresia is an uncommon condition with an incidence of 1:5,000-8,000 live births, affecting females more frequently and often associated with other malformations. This case report presents a 42-year-old female patient who was born with bilateral choanal atresia and intervened surgically for the first time at birth. However, the formed orifice was reobstructed a few months afterward, necessitating reoperation in adulthood. The purpose of this case report is to describe bilateral choanal atresia in detail, including its clinical presentation, epidemiology, diagnosis, pathogenesis, and therapeutic approach. It aims to enhance understanding of this rare but significant condition.

Neonates are obligatory nasal breathers hence nasal obstruction is a very important symptom to be evaluated. Although causes can be trivial most of the time, they can be life-threatening in some. Respiratory distress immediately after birth, feeding difficulties, paradoxical cyanosis, and failure to thrive are the most evident symptoms, and determination of unilateral or bilateral involvement guides the rationale for elective or emergency intervention. This study aimed to evaluate the causes, presentation, and management of neonates with nasal obstruction. We collected the data of all the neonates evaluated for nasal obstruction at our hospital over the past 20 years from June 2003 to May 2023 and assessed the strategy of approach for diagnosis and management of those cases. In our study, the commonest cause for neonatal nasal obstruction was found to be choanal atresia and the rarest was iatrogenic. A variety of other causes were also reported. As neonatal nasal obstruction has a multitude of rare causes each carries a unique assessment and treatment plan. History taking and clinical examination are the most important parts of evaluation including endoscopic evaluation in an office-based setup. Imaging studies add to the evaluation of cases of anatomical obstructions and associated anomalies (syndromes). Early diagnosis and swift intervention can be life-saving. The need for follow-up visits and second-stage corrections should be emphasized in getting the best long-term results.

The article presents literature and our own data on surgical treatment and options for solving the problem of restenosis for congenital choanal atresia in children under one year of age. A new stentless choanoplasty technique using fibrin glue for fixation of posterior septal flaps is presented. This method has patent No. 2789967 dated February 14, 2023.
OBJECTIVE: Evaluation of the effectiveness of the choanoplasty method using fibrin glue for fixation of flaps without the use of a stent in children of the first year of life with choanal atresia.
METHODS: For the period from 2019 to 2023, a team of authors in the Department of Otorhinolaryngology of the Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery operated on 34 patients under the age of one year with a diagnosis of choanal atresia using this choanoplasty technique.
RESULTS: The results of this new surgical technique using fibrin glue are presented. Endoscopy of the nasal cavity and choanal area in all 34 patients during follow-up (from 1 to 2 years) showed no signs of restenosis.
CONCLUSIONS: The proposed method of choanoplasty without the use of stents with fixation of mucosal flaps with fibrin glue has proven itself well and can be used in children at any age, can be one of the ways to solve the problem of restenosis and seems to us to be the method of choice in the treatment of choanal atresia.
В статье приведены данные литературы и собственные данные о хирургическом лечении и вариантах решения проблемы рестенозирования при врожденной атрезии хоан у детей на первом году жизни. Представлен новый метод хоанопластики, позволяющий не использовать стенты и тампонаду в послеоперационном периоде. Предложенный способ основан на применении фибринового клея для фиксации задних септальных лоскутов (патент РФ №RU 2789967 C1 от 14.02.23).
UNASSIGNED: Оценить эффективность эндоскопического транссептального метода хоанопластики с формированием задних септальных лоскутов и фиксацией их медицинским фибриновым клеем у детей первого года жизни с атрезией хоан.
UNASSIGNED: За период с 2019 по 2023 г. коллективом авторов в отделении оториноларингологии ОСП «Научно-исследовательский клинический институт педиатрии и детской хирургии им. акад. Ю.Е. Вельтищева ФГБОУ ВО «РНИМУ им. Н.И. Пирогова» Минздрава России прооперированы 34 пациента в возрасте от 14 дней жизни до 1 года с диагнозом «врожденная атрезия хоан» с применением данного метода хоанопластики.
UNASSIGNED: В процессе катамнестического наблюдения (1—2 года) при эндоскопическом исследовании полости носа и носоглотки у всех 34 пациентов признаки рестенозирования не обнаружены.
UNASSIGNED: Предложенный метод хоанопластики впервые в Росийской Федерации позволил достичь клинического эффекта у грудных детей без применения стентов, что в значительной мере улучшает качество жизни ребенка в раннем послеоперационном периоде, позволяет избежать необходимости трахеостомии, продленной искусственной вентиляции легких и зондового питания. Новый перспективный вариант решения проблемы рестенозирования представляется нам методом выбора при лечении врожденной атрезии хоан.

BACKGROUND: Bosma arhinia microphthalmia syndrome (BAMS; MIM603457) is a rare genetic disorder, predominantly autosomal dominant. It is a multi-system developmental disorder characterized by severe hypoplasia of the nose and eyes, and reproductive system defects. BAMS is extremely rare in the world and no cases have been reported in Chinese population so far. Pathogenic variants in the SMCHD1 gene (MIM614982) cause BAMS, while the underlying molecular mechanisms requires further investigation.
METHODS: In this study, a Chinese girl who has suffered from congenital absence of nose and microphthalmia was enrolled and subsequently submitted to a comprehensive clinical and genetic evaluation. Whole-exome sequencing (WES) was employed to identify the genetic entity of thisgirl. A heterozygous pathogenic variant, NM_015295, c.1025G > C; p. (Trp342Ser) of SMCHD1 was identified. By performing very detailed physical and genetic examinations, the patient was diagnosed as BAMS.
CONCLUSIONS: This report is the first description of a variant in SMCHD1 in a Chinese patient affected with BAMS.Our study not only furnished valuable genetic data for counseling of BAMS, but also confirmed the diagnosis of BAMS, which may help the management and prognosis for this patient.

Choanal atresia obstructs the nasal passage due to abnormal bony or soft tissue remnants owing to the faulty canalization of the nasal passages during fetal development. The clinical manifestations are more pronounced in bilateral cases, often presenting immediately after birth with cyanosis turning pink when crying, as newborns are obligatory nasal breathers. This contrasts in unilateral cases, where the condition may present with mild symptoms and be diagnosed later in life. We present a case of a five-year-old male who initially presented with a concern for nasal polyps due to nasal congestion with absent airflow out of the right nostril. On examination of the pharynx and nose, the patient was diagnosed with nasal turbinate hypertrophy, the right more than the left, and was subsequently scheduled for bilateral inferior turbinate reduction, possible adenoidectomy, and nasal endoscopy. Intraoperatively, inspection with nasal endoscopy along with the inability to pass a catheter through the nasopharynx to reach the oropharynx was our indicator of a more severe diagnosis. Here, we report an incidental finding of the right choanal atresia and seek to highlight its importance given this incidental finding.

The following review article highlights key topics in pediatric rhinology that are currently the focus in research and at conferences as well as in the interdisciplinary discussion between otorhinolaryngologists and pediatricians. In particular, congenital malformations such as choanal atresia or nasal dermoid cysts are discussed, followed by statements on the current procedures for sinogenic orbital complications as well as on the diagnosis and therapy of chronic rhinosinusitis in children. Furthermore, updates on the role of the ENT specialist in the care for children with cystic fibrosis and primary ciliary dyskinesia are provided.
Der folgende Übersichtsartikel beleuchtet Schwerpunkte der pädiatrischen Rhinologie, die aktuell in der Wissenschaft und auf Tagungen sowie in der interdisziplinären Diskussion zwischen Hals-Nasen-Ohren-Heilkunde und Pädiatrie federführend thematisiert werden. Im Speziellen werden angeborene Fehlbildungen wie die Choanalatresie oder die nasalen Dermoidzysten diskutiert. Des Weiteren folgt eine Stellungnahme zum aktuellen Vorgehen bei sinugenen orbitalen Komplikationen sowie zur Diagnostik und Therapie der chronischen Rhinosinusitis bei Kindern. Im Besonderen folgen Updates zur Aufgabe des Hals-Nasen-Ohren-Arztes bei der Betreuung von Kindern mit zystischer Fibrose und Primärer Ziliendyskinesie.

Here we report the case of a young boy with developmental delay, thin sparse hair, early closure of the anterior fontanel, bilateral choanal atresia, brachyturicephaly; and dysmorphic features closely resembling those seen in trichorhinophalangeal syndrome (TRPS). These features include sparse hair, sparse lateral eyebrows, a bulbous pear shaped nose, a long philtrum, thin lips, small/hypoplastic nails, pes planovalgus; bilateral cone-shaped epiphyses at the proximal 5th phalanx, slender long bones, coxa valga, mild scoliosis, and delayed bone age. Given that TRPS had been excluded by a thorough genetic analysis, whole exome sequencing was performed and a heterozygous likely pathogenic variant was identified in the FBXO11 gene (NM_001190274.2: c.1781A > G; p. His594Arg), confirming the diagnosis of the newly individualized IDDFBA syndrome: Intellectual Developmental Disorder, dysmorphic Facies, and Behavioral Abnormalities (OMIM# 618,089). Our findings further delineate the clinical spectrum linked to FBXO11 and highlight the importance of investigating further cases with mutations in this gene to establish a potential genotype-phenotype correlation.

The work illustrates a step-by-step surgical approach to demonstrate technical feasibility of a single-stage endoscopic repair for bilateral choanal atresia with adjuvant bioabsorbable steroid-eluting stent placement to safely mitigate unique perioperative challenges in the pediatric population. Laryngoscope, 2024.

The Bosma syndrome (BAMS: Bosma arhinia microphthalmia syndrome) is a condition first described in 1972. Since then, several reviews have published the cases looking for diagnostic criteria and associated genetic alterations. The mutation in the SMCHD1 gene (Structural Maintenance of Chromosomes flexible Hinge Domain containing protein 1) seems to explain a part of the development of the phenotype. Not all cases show the same alterations or meet the classic diagnostic criteria, and few have undergone genetic analysis. We present a case with a new variant in this gene and an update of the literature on this syndrome with the aim of improving the diagnosis and follow-up of these patients.