HEENT Congenital Abnormalities Flashcards
atresia
Congenital absence of an opening or normally patent lumen/orifice (anus, nose, GI, etc.)
choanal atresia presentation
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)
choanal atresia
Most common congenital obstruction/malformation of nasal passages
bony overgrowth or failure of the embryonic bucconasal membrane to rupture
coloboma
absence or defect of tissue (keyhole eye)
Micrognathia
Abnormal smallness of the jaws
Particularly the mandible
usually self limiting
Macrognathia
Enlargement or elongation of the jaw
Particularly the mandible
Glossoptosis
Downward or posterior displacement/retraction of the tongue
Airway obstruction may lead to apnea and death
Associated with Pierre Robin Syndrome and Down Syndrome
Macroglossia
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)
microcephaly
Having a head circumference that is “significantly below” the median for the infant’s age and sex.
primary genetic causes of microcephaly
Down Syndrome Cri du chat syndrome Seckel’s syndrome Rubinstein- Taybi syndrome Trisomy 13 Trisomy 18 Smith- Lemli- Opitz syndrome Cornelia de Lange syndrome
secondary (acquired) microcephaly causes
Uncontrolled maternal phenylketonuria (PKU) during pregnancy
Methylmercury poisoning
Congenital Toxoplasmosis, Rubella, CMV, Herpes simplex (TORCH titers)
Maternal drug use
Malnutrition
Zika virus
clinically presentation of microcephaly
- 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
hydrocephalous cause
Excessive amounts of CSF in ventricles of brain causing increased ICP
potential etiology of hydrocephalous
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
acute hydrocephalous presentation
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
chronic hydrocephalous presentation
Mild/gradual personality change and lethargy Chronic headaches Gradually increasing head circumference Possible CN VI palsy Chronic papilledema
tx for hydrocephalous
diamox & furosimade (disappointing outcomes)
surgery prefered or shunting
Craniosynostosis
Premature closure of 1 or more cranial sutures
Should remain open until about 1-3 y/o.
Cause largely unknown
two most common Craniosynostosis
MC- scaphocephaly
2nd MC-anterior piagiocephaly
s/sx of Craniosynostosis
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
tx for Craniosynostosis
surgery, helmet
compliations of Craniosynostosis
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.
Cleft lip (cheiloschisis) & Cleft palate (palatoschisis)
Interruption in the merging of the middle & lateral portions of the face and/or the palatal shelves during the 3rd–12th week of gestation
what are congential ear deformities associted with (other organ)
kidneys! do renal u/s
Congenital Cholesteatoma
Non-neoplastic, locally destructive and invasive, white, cyst-like structure medial to an intact TM
Pierre Robin Sequence/Syndrome s/sxs
Glossoptosis
Micrognathia
Cleft Palate +/- Lip
Pierre Robin Sequence/Syndrome tx
Airway management
Feeding support
Surgical repair
charge syndrome
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
Treacher Collins Syndrome or Franceschetti Syndrome
Congenital (autosomal dominant) disorder affecting development of bones and facial tissues
Treacher Collins Syndrome or Franceschetti Syndrome presentation
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
Treacher Collins Syndrome or Franceschetti Syndrome prognosis
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
