Congenital nasal pyriform aperture stenosis (CNPAS) is an unusual narrowing of the anterior nasal vault. Anatomically, the anterior nasal vault is defined by the nasal bones superiorly, the nasal process of the maxilla laterally and the junction of the horizontal process of the maxilla and the anterior nasal spine inferiorly.

This entity was first described in adults in 1952 [10] and in a neonate in 1989 [11]. CNPAS may be an isolated anomaly or associated with other craniofacial malformations. The most common is the holoprosencephaly spectrum including a single central upper incisor tooth, absent upper labial frenulum, and absence of the corpus callosum [12, 13]. In mild cases, the neonate may have stertor and mild difficulty coordinating breathing and feeding. In more severe cases, the child may have symptoms and signs that mimic atresia with cyclical cyanosis and respiratory distress. Often, patients will pass the mirror test since there is stenosis but not atresia. Flexible nasal endoscopy may demonstrate the inability to pass the infant fiberoptic telescope. CT scan is diagnostic and helps to rule out other midline anatomic abnormalities. Beldon performed CT analysis and determined that the normal term infant should have at least an 11 mm width across the pyriform aperture Fig. 2 [14].

Initial management depends on the degree of respiratory distress. In isolated instances, intubation is rarely necessary. However, in syndromic neonates, establishment of a safe airway may be necessary. If multiple airway anomalies are present, nasal surgery alone may not be sufficient and a tracheotomy is required. When the lesion is isolated, surgery with nasal stenting is very successful.

Rarely, a congenital thickening of the nasal septum or narrowing of the total vault may cause mid-vault stenosis premature infants. Typically, this is self-limited and responds well to topical steroid treatment.

Choanal atresia (CA) is a relatively rare malformation occurring in approximately 1 in 7,000–8,000 births. Unilateral atresia is more common than bilateral. Previous textbooks report that CA is more common in females than males; however, more recent reviews report an equal gender distribution [15, 16]. The purported mechanism leading to CA is either failure of buccopharyngeal membrane breakdown or persistence and misdirection of mesoderm during embryogenesis. In only rare circumstances is the obstruction due to soft tissue alone. In almost all cases, there is some bony component that needs to be removed for successful surgical treatment.

Bilateral CA is diagnosed shortly after birth due to characteristic cyclical cyanosis. The mirror test or inability to pass a 5–6 Fr catheter is suspicious for CA. Flexible fiberoptic endoscopy is diagnostic in most cases Fig. 3. Occasionally, an obstructing posterior nasal or nasopharyngeal growth may mimic CA. Fine cut CT scan is essential to determine the site and degree of obstruction, and image the presence of the nasopharyngeal roof and cavity. Unilateral CA may go unrecognized for years and often presents during childhood or adolescence as inability to breathe through one side of the nose with constant unilateral runny nose. Likewise, choanal stenosis as opposed to atresia may go unrecognized for years.

Every neonate with choanal atresia should be screened for CHARGE syndrome. CHARGE used to be classified as an association. However, with the discovery of the genetic marker CHD7 on Chromosome 8, which encodes the chromodomain helicase DNA binding protein, CHARGE is now classified as a syndrome [17]. CHARGE syndrome is characterized by ocular Colobomas, Heart defects, choanal Atresia, Retarded growth, Genitourinary hypoplasia, and Ear abnormalities. CHD7 analysis in CHARGE syndrome detects mutations in 65–70 % of individuals. Cardiovascular abnormalities occur in 75–85 % and tracheoesophageal fistula is present in 15–20 % of newborns with CHARGE syndrome. Ossicular malformations, cochlear anomalies, and semicircular canal hypoplasia occur in over 80 % of patients [17].

Bilateral CA is a medical urgency; however, it is not a surgical emergency. Use of an oral prop for adequate breathing and an orogastric feeding tube for nutrition allows for the orderly evaluation of other potential anomalies, proper counseling, and surgical planning. With the advent of endoscopic equipment, miniaturization of power-assisted drills and shavers, surgical repair of choanal atresia has evolved over the past 20 years. Whereas previous textbooks discuss both transpalatal and transnasal approaches, the vast majority of current repairs are performed using transnasal techniques. Whether or not to place a short-term stent is still debated in the literature [18–21]. The most difficult cases involve syndromes with severe down sloping nasopharyngeal roofs or nearly absent nasopharyngeal cavities such as Treacher Collins syndrome.