We report here a very rare case of bilateral congenital choanal atresia untreated for the 27 years after birth. A 27-year-old Japanese man complaining of long-term nasal obstruction, snoring and daytime sleepiness visited our hospital. He exhibited the characteristic appearances of long face and bilateral hypoplastic cheeks. Examination by flexible fiberscopy and computed tomography led us to diagnose him with bilateral choanal atresia. Subsequent polysomnography revealed the number of apnoea or hypopnoea episodes per hour (apnoea-hypopnoea index, or AHI) to be over 10. On the basis of these observations, we modified the diagnosis to obstructive sleep apnoea syndrome (OSAS) secondary to congenital choanal atresia.
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http://dx.doi.org/10.1258/0022215053561530 | DOI Listing |
J Rhinol
November 2024
Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, Republic of Korea.
Background And Objectives: Congenital choanal atresia is a rare condition that occurs in approximately 1 in 7,000 to 8,000 live births and involves the obstruction of the posterior nasal airway. It may present as either unilateral or bilateral, with bilateral cases being more severe due to the risk of immediate neonatal respiratory distress. Bilateral congenital choanal atresia (BCCA) necessitates prompt medical intervention to prevent cyanosis and significant breathing difficulties.
View Article and Find Full Text PDFLin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
November 2024
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.
View Article and Find Full Text PDFCureus
October 2024
Genetics, Prince Sultan Military Medical City, Riyadh, SAU.
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.
View Article and Find Full Text PDFIndian J Otolaryngol Head Neck Surg
October 2024
Department of Otorhinolaryngology, Faculty of Medicine, Al-Azhar University, Assiut, 71511 Egypt.
Cureus
September 2024
Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia Health Campus, Kota Bharu, MYS.
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).
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