HEENT Congenital Abnormalities

Question 1

atresia

Answer 1

Congenital absence of an opening or normally patent lumen/orifice (anus, nose, GI, etc.)

Question 2

choanal atresia presentation

Answer 2

difficulty with feeding and failure to thrive due to inability to breathe through the nose while feeding.

hypoxia, feeding issues, unilateral nasal discharge (during infxn if unilateral)

Question 3

choanal atresia

Answer 3

Most common congenital obstruction/malformation of nasal passages

bony overgrowth or failure of the embryonic bucconasal membrane to rupture

Question 4

coloboma

Answer 4

absence or defect of tissue (keyhole eye)

Question 5

Micrognathia

Answer 5

Abnormal smallness of the jaws
Particularly the mandible
usually self limiting

Question 6

Macrognathia

Answer 6

Enlargement or elongation of the jaw

Particularly the mandible

Question 7

Glossoptosis

Answer 7

Downward or posterior displacement/retraction of the tongue
Airway obstruction may lead to apnea and death
Associated with Pierre Robin Syndrome and Down Syndrome

Question 8

Macroglossia

Answer 8

Disorder in which the tongue is larger than normal

Usually due to an increase in the amount of tissue in the tongue, not typically due to growth (i.e. tumor)

Question 9

microcephaly

Answer 9

Having a head circumference that is “significantly below” the median for the infant’s age and sex.

Question 10

primary genetic causes of microcephaly

Answer 10

Down Syndrome 
Cri du chat syndrome 
Seckel’s syndrome 
Rubinstein- Taybi syndrome 
Trisomy 13 
Trisomy 18
Smith- Lemli- Opitz syndrome 
Cornelia de Lange syndrome

Question 11

secondary (acquired) microcephaly causes

Answer 11

Uncontrolled maternal phenylketonuria (PKU) during pregnancy
Methylmercury poisoning
Congenital Toxoplasmosis, Rubella, CMV, Herpes simplex (TORCH titers)
Maternal drug use
Malnutrition
Zika virus

Question 12

clinically presentation of microcephaly

Answer 12

• Measure head circumference starting at birth and during each well-child visit – plot on growth chart
• Commonly associated with impaired brain development resulting in developmental delays and cognitive impairment
• Look for other signs that might suggest a syndrome

Question 13

hydrocephalous cause

Answer 13

Excessive amounts of CSF in ventricles of brain causing increased ICP

Question 14

potential etiology of hydrocephalous

Answer 14

Overproduction (rare) or decreased absorption of CSF
AKA: Non-obstructive or communicating
Most commonly seen following a subarachnoid
hemorrhage
Obstructed flow of CSF – Aqueduct stenosis (most common)
AKA: Obstructive or non-communicating
hydrocephalus
Vein of Galen malformation
Arnold-Chiari malformation – elongated brain stem is
kinked and cerebellar tonsils are herniated through
the foramen magnum and obstructs flow of CSF
Dandy-Walker malformation – outlets of the 4th
ventricle are not patent
Acquired – Tumors, meningitis, hemorrhage, trauma

Question 15

acute hydrocephalous presentation

Answer 15

Marked behavioral changes
Severe headache
Vomiting
Bulging fontanelles
Increasing head circumference
CN VI (abducens) nerve palsy; leg spasticity; opisthotonus (tetanic spasm with spine and extremities bent forward in convex with body on head & heels); papilledema in older kids

Question 16

chronic hydrocephalous presentation

Answer 16

Mild/gradual personality change and lethargy
Chronic headaches
Gradually increasing head circumference
Possible CN VI palsy
Chronic papilledema

Question 17

tx for hydrocephalous

Answer 17

diamox & furosimade (disappointing outcomes)

surgery prefered or shunting

Question 18

Craniosynostosis

Answer 18

Premature closure of 1 or more cranial sutures
Should remain open until about 1-3 y/o.
Cause largely unknown

Question 19

two most common Craniosynostosis

Answer 19

MC- scaphocephaly

2nd MC-anterior piagiocephaly

Question 20

s/sx of Craniosynostosis

Answer 20

Absence of the typical “soft spot” (fontanelle) on the newborn’s skull
A raised hard ridge along the affected suture
Due to ossification of suture line
Unusual head shape (asymmetry)
Slow or no increase in the head size (small head circumference) = multiple/all sutures fused
CNS/CN involvement if brain growth restricted

Question 21

tx for Craniosynostosis

Answer 21

surgery, helmet

Question 22

compliations of Craniosynostosis

Answer 22

Untreated craniosynostosis results in deformity of the head that can be severe and, if uncorrected, permanent.
Growth arrest in multiple sutures, may result in:
Elevation of ICP
Neurodevelopmental delays, restricted brain growth, etc.

Question 23

Cleft lip (cheiloschisis) & Cleft palate (palatoschisis)

Answer 23

Interruption in the merging of the middle & lateral portions of the face and/or the palatal shelves during the 3rd–12th week of gestation

Question 24

what are congential ear deformities associted with (other organ)

Answer 24

kidneys! do renal u/s

Question 25

Congenital Cholesteatoma

Answer 25

Non-neoplastic, locally destructive and invasive, white, cyst-like structure medial to an intact TM

Question 26

Pierre Robin Sequence/Syndrome s/sxs

Answer 26

Glossoptosis
Micrognathia
Cleft Palate +/- Lip

Question 27

Pierre Robin Sequence/Syndrome tx

Answer 27

Airway management
Feeding support
Surgical repair

Question 28

charge syndrome

Answer 28

Coloboma
Heart disease (structural cardiac anomalies)
Atresia of choanae
Retarded growth and development or CNS anomalies, or both
Genitourinary anomalies or hypogonadism, or both
Ear anomalies or deafness, or both

Question 29

Treacher Collins Syndrome or Franceschetti Syndrome

Answer 29

Congenital (autosomal dominant) disorder affecting development of bones and facial tissues

Question 30

Treacher Collins Syndrome or Franceschetti Syndrome presentation

Answer 30

Palpebral fissures sloping downward with drooping lids
Coloboma of the lower eyelids
Sunken cheekbones
Blind fistulas opening between the angles of the mouth and the ears
Deformed pinna
Atypical hair growth extending toward the cheeks
Receding chin
Large mouth
Facial clefts, abnormalities of the ears, and deafness are also common

Question 31

Treacher Collins Syndrome or Franceschetti Syndrome prognosis

Answer 31

Children with Treacher- Collins should grow to become normally functioning adults of normal intelligence.

Careful attention to any hearing problems helps ensure better performance in school