HEENT Congenital Abnormalities Lecture Powerpoint Flashcards
Atresia
Congenital absence of an opening or patent lumen/oriface either bony or soft tissue
Coloboma
Absence or defect of tissue, most commonly occurring in the eye (keyhole iris defect) where choroid fissure fails to fuse during fetal development
Micrognathia/mandibular hypoplasia
Abnormal smallness of the jaw particularly the mandible, somewhat common, more severe cases associated with genetic conditions or fetal alcohol syndrome and may cause feeding or breathing problems
Macrognanthia/prognathic mandible
Enlargement or elongation of aw, particularly mandible, may be associated with tumors, gigantism, etc
Glossoptosis
Downward or posterior displacement or retraction of the tongue, airway obstruction may lead to apnea or death, associated with pierre robin syndrome and down syndrome
Macroglossia
Cponditoin where tongue is larger than normal, usually due to increased amount of tissue in tongue, not typically due to growth
Microcephaly
Head that is significantly below median head circumference for age or sex that is in the 1st or 2nd percentile or less than 42 cm at circumference at full growth, can be genetic or acquired (exposure), commonly associated with impaired brain development resulting in delays and cognitive impairment
Some common exposures resulting in secondary microcephaly (6)
- methylmercury poisoning
- TORCH viruses
- zika virus
- CMV
- alcohol/drug use of mother
- malnutrition
Diagnostic studies for suspected microcephaly (4)
- mother serum phenylallanine level
- karytoyping
- MRI
- TORCH titers
Microcephaly treatment options
- genetic counseling
- programs/services for developmental delay
Toxoplasmosis is potentially found in…
….cat litter
hydrocephalus definition
Excessive amounts of CSF in ventricles of brain leading to incresed intracranial pressures and dilated ventricles, may result in enlargement of cranium and brain atrophy, either due to overproduction (not commonly seen) or obstruction (aquaduct stenosis)
Vein of galen malformation, arnold chiari malformation, dandy walker malformation
3 types of congenital defects involving the brain and its structure that predispose to obstructed flow of CSF resulting in hydrocephalus
Acute vs chronic hydrocephalus
Acute has dramatic symptoms such as severe headache and vomiting while chronic comes on mild with chronic headaches and papilledema
Hydrocephalus tests (3) and treatment options (3)
- Ultrasound
- Ct
- MRI
- acetazolamide (temporary relief)
- surgical (endoscopic third ventriculostomy)
- shunting (ventriculoperitoneal or ventriculoatrial)
Craniosynostosis
Premature closure of 1 or more cranial sutures which should normally remain open from 1-3 years old (9-15 in the anterior), if all close the head cannot grow but if one or 2 close prematurely we get an asymmetric head
2 most common types of craniosynostosis
- synostatic scaphocephaly (growth bilaterally)
- synostotic anterior plagiocephaly (unicornal, growth out to the side on one side)
Craniosynostosis treatment options (2) and prognosis
- helmet (questions efficacy)
- surgery to open sutures
-idiopathic post surgery results are better than inherited ones
Craniosynostosis complications (2)
- elevated ICP
- neurodevelopmental delays and restricted brain growthq
Cheiloschisis and palatoschisis
Cleft lip and palate, respectively
Most freqent major craniofacial abnormality in children
Cleft lip and cleft palate
Lip and palate develop ___
separately (we can see cleft lip or palate occur together or not)
Pierre robin syndrome and treatment options (3)
Cleft lip and/or palate with micrognathia (small jaw) and glossoptosis (retracted tongue)
- airway management
- feeding support
- surgical repair
What time of gestation does a cleft lip fuse (if it doesn’t then its unlikely its going to improve by birth)
3rd-12th week
