and Congenital Anomalies


Fig. 33.1

Child with 22q11.2 deletion syndrome. (From Habel et al. [4], with permission)



The condition has extreme phenotypic variability, but the classical clinical features include congenital heart disease (including tetralogy of Fallot) [3], Pierre Robin cleft palate secondary to micrognathia, thymic aplasia with immune deficiency, and hypocalcemia due to hypoparathyroidism. Other cardiac problems include pulmonary atresia with ventricular septal defect, truncus arteriosus, interrupted aortic arch, isolated anomalies of the aortic arch, and ventricular septal defect. Most individuals have some degree of velopharyngeal insufficiency, even in the absence of a cleft palate. Submucous cleft palate is also common. Other features include speech and cognitive delays, hearing loss, short stature, psychiatric disorders, and an increased propensity to autoimmune disorders. Congenital anomalies of the cervical spine and kidneys are also common.


At diagnosis affected individuals should have imaging for occult structural anomalies including echocardiogram and renal ultrasound. Cervical spine x-rays should be performed after age 4. Patients should be referred to immunology at diagnosis and regularly screened for hypothyroidism, hearing loss, hypocalcemia, and thrombocytopenia. Patients should also be watched for cognitive and developmental delays. Guidelines for care of children with 22q11.2 deletion syndrome, including screenings and evaluations at recommended ages, are available [1, 4].


Feeding and Swallowing


Children with 22q11.2 deletion syndrome are more vulnerable to feeding and swallowing problems than the general population [5]. This can result from a variety of causes and is often multifactorial. Children have been found to have difficulty with coordination of suck, swallow, and breathe, slow feeding, and gastrointestinal problems including vomiting, reflux, and constipation [6]. Those children with velopharyngeal dysfunction (with or without cleft palate) can have feeding problems related to the inability to generate enough negative pressure to suck from a breast or standard bottle, leading to prolonged feedings, poor weight gain, and failure to thrive. Hypotonicity can lead to difficulty with the oropharyngeal swallow. Vocal fold paralysis following cardiac surgery can impact airway protection.


Voice, Laryngeal, and Velopharyngeal Abnormalities


Velopharyngeal and laryngeal abnormalities occur frequently in this population. Ebert and colleagues [7] found that 18% of patients studied had a laryngeal abnormality, and those reported include laryngeal web, subglottic stenosis, vocal fold paralysis (often secondary to cardiac surgery), and laryngomalacia (Fig. 33.2) [7, 8]. Voice evaluation revealed that 65% of children had perceptual voice quality within normal limits [7]. Individuals with 22q11.2 deletion syndrome have more severe speech difficulties than most children with cleft palate and even in the absence of an overt or submucous cleft may have velopharyngeal insufficiency. The severity of hypernasality has been attributed to both reduced velar thickness and platybasia [9, 10].

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Fig. 33.2

Severe laryngeal web found in a child with 22q11.2 deletion syndrome. This child required tracheotomy shortly after birth and will require laryngeal-tracheal reconstruction prior to decannulation as the web also involves the cricoid


It is extremely important to be aware that children with 22q11.2 deletion syndrome can have a medialized internal carotid, and knowledge of the location of the carotid is needed before any surgery to the head or neck. Additionally, adenoidectomy in children with this syndrome can unmask velopharyngeal dysfunction and should be undertaken carefully.


While detailed discussion of this is outside of the scope of this text, it should be noted that children with 22q11.2 deletion syndrome are at high risk for speech, language, and learning problems. They are also at risk for psychiatric problems [11].


Treacher Collins Syndrome


Treacher Collins syndrome is due to inactivating mutations in the gene TCOF1. The condition often occurs de novo but can be inherited from an affected parent in a dominant fashion. The primary congenital anomaly is hypoplasia of zygomatic arches resulting in malar hypoplasia with downslanting palpebral fissures. Ear malformations, preauricular tags, and lower eyelid coloboma are common (Fig. 33.3) [12]. Patients have normal cognitive abilities, and congenital anomalies outside the head neck region are rare. Miller syndrome is an autosomal recessive disorder due to mutations in the gene DHODH. Miller syndrome is similar to Treacher Collins syndrome in that malar hypoplasia is common; however, patients with Miller syndrome also have anomalies of limbs, including radial and/or ulnar hypoplasia.

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Fig. 33.3

8-year-old child with Treacher Collins syndrome. (From Teichgraeber et al. [12], with permission)


Feeding and Swallowing


While feeding and swallowing problems are frequently reported in the Treacher Collins population, these are frequently related to micro-/retrognathia and difficulty breathing, resulting in difficulty coordinating suck/swallow/breathe and potential aspiration, poor feeding efficiency, and poor weight gain. It is not clear that there are any primary oropharyngeal swallow deficits, but rather these result from anatomic differences [13]. Side-lying positioning during feeding and external pacing can be helpful in improving feeding.


VACTERL Association


VACTERL association is a constellation of congenital anomalies that often occur together, the genetic basis is unknown, and the condition is generally not inherited. The clinical features that often occur include vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheoesophageal atresia with fistula (TE), renal anomalies (R), and limb malformations including radial atresia (L). Some patients have speech and/or feeding delays, but cognitive development is usually normal. The condition is a diagnosis of exclusion in that overlapping genetic conditions (such as Fanconi anemia, CHARGE syndrome, and 22q11.2 deletion syndrome) should be ruled out before making a diagnosis of VACTERL. At diagnosis investigations for occult congenital anomalies should occur including radiographs of the spine, echocardiogram, and renal ultrasound. An image of a typical limb malformation with thumb hypoplasia is seen in Fig. 33.4.

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Fig. 33.4

Typical limb malformation with thumb hypoplasia seen in VACTERL association. (Courtesy of National Human Genome Research Institute https://​elementsofmorpho​logy.​nih.​gov/​index.​cgi?​tid=​901e03be3fdf0a9e​)


Feeding and Swallowing


Feeding and swallowing problems in children with VACTERL association are highly variable and depend on the constellation and severity of clinical features. Tracheoesophageal fistula can lead to airway invasion prior to repair and frequently poor esophageal motility after repair. Cardiac malformations can put children at risk for vocal fold paralysis.


CHARGE Syndrome


CHARGE syndrome is due to point mutations in the gene CDH7. It can be inherited in an autosomal dominant fashion from an affected parent, but must cases occur de novo. The common clinical features include ocular coloboma (C), congenital heart disease (H), choanal atresia (A), growth retardation/renal malformations (R), genital malformations (G), and characteristic ear malformations (E) (Fig. 33.5) [14]. Esophageal atresia, immune deficiency, Mondini malformation, and facial nerve palsy are also common features. Intellectual disability can occur.

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Apr 26, 2020 | Posted by in OTOLARYNGOLOGY | Comments Off on and Congenital Anomalies

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