[One case of congenital choanal atresia with additional nostril nasal cavity malformation].

This article reports a case of congenital choanal atresia with additional nostril and nasal deformities admitted to Henan Children's Hospital. A 43-day-old female patient was admitted to the hospital because of wheezing with mouth opening breathing and restricted feeding after birth'. The patient was diagnosis as bilateral congenital posterior nostril membranous atresia, congenital extra nostril nasal deformity and nasal stenosis by fiberoptic nasopharyngoscopy, CT, gene detection, and physical examination results.

Report of DeSanto-Shinawi Syndrome in Three Boys With Two Novel Variants in the WAC Gene and Expansion of the Phenotype.

Desanto-Shinawi syndrome (DESSHS) is a rare autosomal dominant disorder caused by a loss of function variant or deletion of the WAC gene. DESSHS is characterized by dysmorphic features and global developmental delay. In this report, we discuss three boys with DESSHS.

Chromosome Translocation t(6; 14) With Different Phenotypes and Segregation Patterns: A Report of Two Cases.

Chromosomal rearrangement can disrupt gene function by interfering with coding sequences or their regulatory regions. The breakpoint in these rearrangements can pinpoint the disease-related gene's location. This paper presents two rare cases of chromosomal rearrangement involving chromosome 6 (6p24-25) and chromosome 14 (14q22-23).

Congenital Nasal Pyriform Aperture Stenosis and the Significance of McGovern Nipple.

Congenital nasal pyriform aperture stenosis (CNPAS) is a rare but potentially life-threatening cause of upper airway obstruction in infants. It was first described in 1988 and 1989 in the radiology and otolaryngology literature. Congenital airway obstruction affects up to 1 in 5,000 infants, and many of these obstructions result from choanal atresia.

Congenital bilateral nasal obstruction in neonate: Case report with review of literature for congenital nasal pyriform aperture stenosis (CNPAS) and differential diagnosis and management.

Congenital nasal pyriform aperture stenosis is a newly defined clinical entity that causes nasal airway obstruction in neonates due to the narrowing of the pyriform aperture, which is the narrowest and most anterior portion of the nasal airway. As newborns are obligate nasal breathers except when crying, a child with bilateral nasal pyriform aperture obstruction presents as an acute airway emergency, resulting in apnea and cyanosis. This entity should be kept in the differential diagnosis of any neonate or infant presenting with signs and symptoms of upper airway obstruction.

[Treatment of congenital bilateral choanal atresia by low temperature plasma ablation and fully degradable sinus drug stent: a case report].

To investigate the application of low temperature plasma ablation combined with fullly degradable sinus stent system in the treatment of congenital choanal atresia mainly menbranous atresia. A child with membranous bilateral choanal atresia admitted in April 2023 was analyzed. This case underwent endoscopic ablative posterior nostriplasty and placed a fully degradable drug stent in bilateral operative cavities.

Bilateral Choanal Atresia in a 42-year-old Patient: A Rare Condition Case Report.

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.

Neonatal Nasal Obstruction: A Comprehensive Analysis of Our 20 Years' Experience.

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.

Hemiarhinia caused by a missense variation in SMCHD1: A mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome.

Bosma arhinia microphthalmia syndrome (BAMS, OMIM #603457) is a rare autosomal dominant disorder caused by heterozygous variation in the SMCHD1 gene on chromosome 18p11. Clinically, it is characterized by microphthalmia, absence or hypoplasia of nose, choanal atresia, anosmia, palatal abnormalities, hypogonadotropic hypogonadism, and cryptorchidism. Here we report a Brazilian patient with a likely pathogenic variation in SMCHD1 gene (c.

[Choanoplasty in children of the first year of life: new opportunities and rehabilitation without stents].

Unlabelled: 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.

Disorder-Not CHARGE Syndrome-Presenting as Isolated Cochleovestibular Dysfunction.

CHARGE syndrome, characterized by a distinct set of clinical features, has been linked primarily to mutations in the gene. Initially defined by specific clinical criteria, including coloboma, heart defects, choanal atresia, delayed growth, and ear anomalies, CHARGE syndrome's diagnostic spectrum has broadened since the identification of . Variants in this gene exhibit considerable phenotypic variability, leading to the adoption of the term " disorder" to encompass a wider range of associated symptoms.

Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report.

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.

Clinical and computed tomography findings in cats with nasopharyngeal stenosis.

Objectives: Concurrent anomalies are often found in nasopharyngeal stenosis and choanal atresia; some seem to be of primary nature, whereas others may be coincidental. This study aimed to report the computed tomography features and related comorbidities of these diseases.

Materials And Methods: A cross-sectional retrospective study was performed using case and control groups defined according to the presence of signs of upper airway disease and the presence/absence of nasopharyngeal stenosis, respectively.

Unilateral Choanal Atresia in a Child With Prolonged Nasal Congestion.

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.

How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.

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.

A Modified Single-Stage Endoscopic Repair for Bilateral Choanal Atresia.

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, 134:4414-4417, 2024.

Dacryocystocele and Subsequent Dacryocystectomy in a Patient With Bosma Arhinia Microphthalmia Syndrome (BAMS): A Case Report and Review of Literature.

Bosma arhinia microphthalmia syndrome (BAMS) is a rare syndrome consisting of several craniofacial abnormalities, including congenital arhinia. In this case report, the authors present the first case of a patient with BAMS and dacryocystocele who successfully underwent dacryocystectomy. Dacryocystectomy may serve as a viable surgical approach for dacryocystocele in patients with abnormal nasal anatomy.