Unilateral Choanal Atresia: Indications of Long-Term Olfactory Deficits and Volumetric Brain Changes Postsurgically

<b><i>Background:</i></b> Very few studies have investigated whether unilateral choanal atresia is associated with permanent olfactory deficits. <b><i>Objective:</i></b> This study aimed to evaluate the olfactory performance of patients with unilateral choanal atresia postsurgically. <b><i>Methods:</i></b> Three patients with unilateral atresia were examined in terms of olfactory performance with the Sniffin’ Sticks test (odor identification, threshold, and discrimination), size of the olfactory bulb, and volumetric brain changes. <b><i>Results:</i></b> All patients demonstrated significantly lower olfactory performance in terms of odor threshold on the same side with the choanal atresia. Grey matter reductions were found ipsilaterally in the hippocampus. <b><i>Conclusions:</i></b> This pilot study indicates that persistent olfactory deficits and volumetric brain changes are present in patients with unilateral choanal atresia.

Case Report: Congenital nasal pyriform aperture stenosis with holoprosencephaly: Diagnosis and surgical management

Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of neonatal nasal obstruction that clinically mimics choanal atresia. It occurs as a result of abnormal development of primary palate and maxilla, either in isolation or in association with other anomalies. Differentiation between CNSPAS and choanal atresia is critical as management approachers are quite different from one another. Diagnosis can be made clinically and with characteristics CT findings. Management options include both conservative and surgical approaches depending on the patient’s initial condition. Here is reported a case of 33 days infant who was admitted to our NICU with a working diagnosis of CNPAS after she presented with two days of fast breathing and failure to suckle, managed surgically and discharged improved.

Tessier 3 and 4 Clefts and Choanal Atresia: An Unusual Association?

Introduction Craniofacial clefts are rare congenital anomalies that might involve both soft tissue and skeletal components. The association of Tessier cleft number 3 and 4 with choanal atresia appears to be unusual and only few clinical cases have been reported in published literature. Objectives Report a series of 13 cases of choanal atresia in patients with Tessier numbers 3 or 4 clefts and the literature review on this topic. Methods A literature review was undertaken via PUBMED database before April 2020 addressing the association between Tessier numbers 3 or 4 clefts and choanal atresia. Retrospective chart review of patients diagnosed with both comorbidities at a tertiary hospital expertised in craniofacial anomalies. Results Literature review yielded 10 studies describing the relationship between choanal atresia and Tessier 3 and 4 facial clefts. We identified 98 patients diagnosed with medial oro-ocular facial clefts (Tessier 3 and 4) and 119 with choanal atresia at our institution over a 20 years time period. Altogether, 13 individuals were diagnosed with both malformations, 3 patients with number 3 cleft, and 10 patients with number 4 cleft. It represents 13.26% of the cases. Conclusion This study highlights the features of Tessier 3 and 4 facial clefts associated with choanal atresia. Although the publications regarding this association are very scarce, the authors present the largest series of cases of Tessier number 3 and 4 clefts with choanal atresia showing that association between these conditions could be not so unusual.

Treacher Collins Syndrome: Genetics, Clinical Features and Management

Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of TCS include microtia with conductive hearing loss, slanting palpebral fissures with possibly coloboma of the lateral part of lower eyelids, midface hypoplasia, micrognathia as well as sporadically cleft palate and choanal atresia or stenosis. TCS occurs in the general population at a frequency of 1 in 50,000 live births. Four subtypes of Treacher Collins syndrome exist. TCS can be caused by pathogenic variants in the TCOF1, POLR1D, POLR1C and POLR1B genes. Genetically, the TCOF1 gene contains 27 exons which encodes the Treacle protein. In TCOF1, over 200 pathogenic variants have been identified, of which most are deletions leading to a frame-shift, that result in the formation of a termination codon. In the presented article, we review the genetics and phenotype of TCS as well as the management and surgical procedures utilized for treatment.