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Pediatrics > HEENT Congenital Abnormalities Lecture Powerpoint > Flashcards

HEENT Congenital Abnormalities Lecture Powerpoint Flashcards

1
Q

Atresia

A

Congenital absence of an opening or patent lumen/oriface either bony or soft tissue

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2
Q

Coloboma

A

Absence or defect of tissue, most commonly occurring in the eye (keyhole iris defect) where choroid fissure fails to fuse during fetal development

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3
Q

Micrognathia/mandibular hypoplasia

A

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

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4
Q

Macrognanthia/prognathic mandible

A

Enlargement or elongation of aw, particularly mandible, may be associated with tumors, gigantism, etc

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5
Q

Glossoptosis

A

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

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6
Q

Macroglossia

A

Cponditoin where tongue is larger than normal, usually due to increased amount of tissue in tongue, not typically due to growth

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7
Q

Microcephaly

A

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

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8
Q

Some common exposures resulting in secondary microcephaly (6)

A
  • methylmercury poisoning
  • TORCH viruses
  • zika virus
  • CMV
  • alcohol/drug use of mother
  • malnutrition
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9
Q

Diagnostic studies for suspected microcephaly (4)

A
  • mother serum phenylallanine level
  • karytoyping
  • MRI
  • TORCH titers
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10
Q

Microcephaly treatment options

A
  • genetic counseling

- programs/services for developmental delay

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11
Q

Toxoplasmosis is potentially found in…

A

….cat litter

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12
Q

hydrocephalus definition

A

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)

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13
Q

Vein of galen malformation, arnold chiari malformation, dandy walker malformation

A

3 types of congenital defects involving the brain and its structure that predispose to obstructed flow of CSF resulting in hydrocephalus

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14
Q

Acute vs chronic hydrocephalus

A

Acute has dramatic symptoms such as severe headache and vomiting while chronic comes on mild with chronic headaches and papilledema

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15
Q

Hydrocephalus tests (3) and treatment options (3)

A
  • Ultrasound
  • Ct
  • MRI
  • acetazolamide (temporary relief)
  • surgical (endoscopic third ventriculostomy)
  • shunting (ventriculoperitoneal or ventriculoatrial)
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16
Q

Craniosynostosis

A

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

17
Q

2 most common types of craniosynostosis

A
  • synostatic scaphocephaly (growth bilaterally)

- synostotic anterior plagiocephaly (unicornal, growth out to the side on one side)

18
Q

Craniosynostosis treatment options (2) and prognosis

A
  • helmet (questions efficacy)
  • surgery to open sutures

-idiopathic post surgery results are better than inherited ones

19
Q

Craniosynostosis complications (2)

A
  • elevated ICP

- neurodevelopmental delays and restricted brain growthq

20
Q

Cheiloschisis and palatoschisis

A

Cleft lip and palate, respectively

21
Q

Most freqent major craniofacial abnormality in children

A

Cleft lip and cleft palate

22
Q

Lip and palate develop ___

A

separately (we can see cleft lip or palate occur together or not)

23
Q

Pierre robin syndrome and treatment options (3)

A

Cleft lip and/or palate with micrognathia (small jaw) and glossoptosis (retracted tongue)

  • airway management
  • feeding support
  • surgical repair
24
Q

What time of gestation does a cleft lip fuse (if it doesn’t then its unlikely its going to improve by birth)

A

3rd-12th week

25
Q

Cleft lip/palate complications (3)

A
  • complications in suckling/feeding
  • often interupts eustachian dube development resulting in otitis media and hearing loss
  • difficulty with vocalizations
26
Q

Cleft lip/palate treatment (2)

A
  • plastics to allow to drink and eat

- surgery (cheiloplasty or palatoplasty)

27
Q

Developmental considerations of ear deformities

A

-external and middle ear continue to develop thru puberty but ossicles achieve adult size by 15-18th week gestation, malformed external and middle ears may be associated with serious renal anomalies

28
Q

If an ear deformity is present, ___ should be performed to check for other complications

A

Renal ultrasound

29
Q

Microtia and anotia and treatment (1)

A

Small outer ear and abence of the pinna of the ear

Surgery

30
Q

Congenital cholesteatoma

A

Non neoplastic locally destructive cyst like structure medial to an intact tympanic membrane

31
Q

Congenital cholesteatoma presentation (1), complications (1), and treatment (01)

A
  • deep retraction pockets, keratin debris, cronic drainage and mass
  • local bone destruction
  • CT followed by surgical excision
32
Q

Most common congenital obstruction/malformation of nassal passages

A

nasal (choanal) atresia

33
Q

Choanal atresia signs and symptoms (4) and treatment (2)

A
  • hypoxia
  • feeding issues
  • unilateral nasal discharge
  • inability to pass catheter

-establish oral airway
surgical reconstruction

34
Q

Nasal synechia

A

Nasal adhesion/scar tissue normally congenital or post traumatic, can be surgically lysed

35
Q

Hypertrophic turbinate

A

Inferior most common, steroid spray and surgery are used to treat

36
Q

CHARGE syndrome

A

Sydnrome of associated coloboma, heart disease (structural anomalies), atresia of choanae, retarded growth and development or CNS anomalies, genitourinary anomalies or hypogonadism, ear anomalies or deafness

37
Q

Treacher collins syndrome or franceschettis syndrome (mandibulofacial dysostosis), what is the prognosis?

A

congenital disorder affecting bones and facial tissue including palpebral fissures sloping downward with drooping eyelids, coloboma of the eyelids, deformed pinna, atypical hair growth, receding chin,

, normally have minimal functional issues with levels of intelligence other than hearing***

38
Q

Treacher collins syndrome or franceschetti sydnrome (mandibulofacial dysostosis) treatment options (2)

A
  • testing for and treating hearing loss associated

- plastic surgery

Pediatrics (29 decks)

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