Skip to Main Content

++
Patient Story
++

A newborn male, day of life 0, presented with respiratory distress requiring intubation. He was noted to have low set ears, micrognathia, and a cleft palate. Upon closer examination, he was also noted to have a right-sided complete aural atresia and the left canal is stenotic. His midface appeared hypoplastic and he was noted to have a cleft palate. A genetics consult was obtained and the patient was diagnosed with Treacher Collins syndrome (Figure 34-1). Surgical repair of palate was performed at 10 months of age, and a softband bone conduction device was provided in infancy for hearing habilitation. The family was counseled regarding ultimate options for reconstruction of microtia and aural atresia.

++
FIGURE 34-1

Treacher Collins syndrome in an infant with severe manifestations, as seen on lateral (A) and frontal (B) views. Note the microtia (underdeveloped pinna) and aural atresia. Severe maxillary and zygomatic hypoplasia leads to downsloping lateral canthi. This infant also has a facial pit and cleft palate. (Used with permission from Prashant Malhotra, MD.)

Graphic Jump Location
++
Introduction
++

Congenital anomalies in the head and neck are numerous and varied. In this chapter, we provide a general approach to the diagnosis and management of children with these anomalies and then outline an anatomic approach to considering these abnormalities using some illustrative photographs of those commonly encountered or unique entities.

++

Consensus terminology is critical for discussion. An anomaly is a structural or functional defect, which is present at the time of birth. A malformation is a major defect that is the result of incorrect morphogenesis. A sequence is a series of defects that occur in a nonrandom fashion. A single event then leads to a series of malformations. Pierre-Robin sequence is an example of a sequence. An association is encountered when there is a tendency of some malformations to occur together more commonly than would be expected by chance, but are not considered to be a part of an established malformation syndrome. An example is the CHARGE association, which includes coloboma, heart anomaly, choanal atresia, retarded growth, genital, or ear anomalies.1

++
Diagnosis
++
Clinical Features
++

  • Congenital anomalies in the head and neck are common and a thorough head and neck examination is recommended.

  • An initial airway evaluation for signs of distress or obstruction is essential. This includes observation of retractions and desaturations, listening for stridor, stertor, as well as evaluation of the voice. Stridor is generally a higher pitched sound and can occur during inspiration, expiration, or both. Stertor sounds more like snoring and occurs on inspiration, and is more indicative of obstruction in the nasal cavity, nasopharynx, or oropharynx. A hoarse, quiet, or raspy cry may indicate vocal cord pathology such as cord immobility or mass.

    ...

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.

Ok

Create a Free MyAccess Profile

* Required Fields

Note: If you have registered for a MyAccess profile on any of the Access sites, you can use the same MyAccess login credentials across all sites.

Passwords must be between 6 and 40 characters long (no whitespace), cannot contain characters #, &, and must contain:
  • at least one lowercase letter
  • at least one uppercase letter
  • at least one digit

Benefits of a MyAccess Profile:

  • Remote access to the site off-campus on any device
  • Notification of new content via custom alerts
  • Bookmark your favorite content such as chapters, figures, tables, videos, cases and more
  • Save and download images to PowerPoint
  • Self-Assessment quizzes saved for quick review
  • Custom Curriculum access for both instructors and learners

Subscription Options

AccessPediatrics Full Site: One-Year Subscription

Connect to the full suite of AccessPediatrics content and resources including 20+ textbooks such as Rudolph’s Pediatrics and The Pediatric Practice series, high-quality procedural videos, images, and animations, interactive board review, an integrated pediatric drug database, and more.

$595 USD
Buy Now

Pay Per View: Timed Access to all of AccessPediatrics

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.