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203 Cards in this Set
- Front
- Back
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What is the most common facial cleft
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cleft uvula
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Which ethnic group has the highest incidence of cleft lip
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native american
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which ethnic group has highest incidence of isolated cleft palate
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equal amongst racial groups
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what is the M:F ratio for cleft lip
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2:1
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what is M:F ratio for isolated cleft palate
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1:2
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what is the incidence of cleft lip in term newborn
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1/1000
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what is incidence of isolated cleft palate in term newborn
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1/2000
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what is incidence of submucous cleft palate in term newborn
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1/1200
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what is the chance of producing a cleft-lipped child when 1 parent is affected
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4%
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what is the most common single gene transmission error causing clefts
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trisomy 21
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Most common environmental cause for clefts
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maternal DM
amniotic band |
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what is the characteristic nasal deformity in a child with a unilateral cleft lip
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inferior and posterior displacement of the alar cartilage on the cleft side
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what happens to the orbicularis oris muscle in a complete cleft lip
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muscle fibers follow the cleft margins and terminate at the alar base
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what happens to the orbicularis oris in incomplete cleft lip
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muscle fibers remain continuous but are hypoplastic across cleft
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what is simonart's band
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bridge of tissue connecting the central and lateral lip in an incomplete cleft
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what is the difference between a complete cleft of the primary palate and the secondary palate
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complete cleft of primary palate extends to nose, always with cleft lip, no exposure of vomer
complete cleft of secondary palate involves hard and soft palates, extends into nose, exposes vomer |
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what is an incomplete cleft
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varying amount of midline mucosal attachment preserved with an underlying muscluar deficiency
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what type of cleft is a submucous cleft palate
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incomplete cleft of the secondary palate
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what happens to the soft palate muscles in a secondary cleft palate
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muscle fibers follow the cleft margins and insert into the posterior edge of the remaining soft palate
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what are the boundaries of a unilateral cleft of the primary palate
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from the incisive foramen anteriorly, between the canine and adjacent incisor to the lip
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what are the two most commonly used classification systems for clefts
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Veau and Iowa
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Feeding difficulties are most severe in which cleft
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secondary palate clefts
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what strategies can be used to assist feeding a cleft palate
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specialized nipples
upright feeding palatal plates |
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what percent of children with cleft palate do not require tympanostomy tubes
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8-10%
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what further facial deformities often occur as a child with a cleft palate grows
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collapse of alveolar arch
midface retrusion malocclusion |
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what is the role of palatal plates in the treatment of cleft palate
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palatal plate if worn 3 months pre-op lessens closure tension during surgery
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which sounds are most difficult in pts with cleft palate
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consonants, require full palatal lift
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what disorder should be suspected in kids with cleft palate below 5th percentile in growth
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growth hormone deficiency
40x more common in this population |
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what are the clinical differences btwn hemangioma and vascular malformation
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-vascular malforms present at birth, grow proportionately, associated with distortion or destruction of surrounding bone
-hemangiomas emerge after birth, proliferate then regress |
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what are typical clinical features of venous malformations
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soft, compressible, nonpulsatile mass
most common on lip or cheek also found within masseter |
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what are the clinical features of AV malformations
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brightly erythematous lesions of the skin assoiated with thrill and bruit
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what percent of infants have a hemangioma by age 1
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12%
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what is the incidence of hemangiomas in premature infants
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23%
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btwn what ages do hemangiomas grow most rapidly
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8-18 months
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what percent of hemangiomas regress by age 7
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70%
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where are most subglottic hemangiomas located
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posterolaterally and submucosally
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what percent of pts with subglottic hemangioma have an associated cutaneous hemangioma
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50%
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what is the most common treatment for hemangioma
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obs, parental reassurance
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when is intervention warrented for hemangioma
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-massive, ulcerative, disfiguring lesions
-produce hematologic, cardiovascular, aerodigestive compromise -large periorbital lesions |
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what syndrome is characterized by profound thrombocytopenia associated with a hemangioma
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Kasabach-Merritt syndrome
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what are the four main types of vascular malformations
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capillary
venous lymphatic arteriovenous |
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what is the most common vascular malformation
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port wine stain
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which type of vascular malformation is a port wine stain
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capillary
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what syndrome is characterized by port wine stain along V1 with concomitant capillary, venous, arteriovenous malformations of the leptomeninges
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Sturge-Weber
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what is the optimal treatment for port-wine
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-argon laser in darker skinned adults
-flashlamp pulsed tunable dye laser in kids, lighter skin |
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which lesions respond best to pulsed dye laser
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<20cm in kids <1yr
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what are 4 categories of lymphatic malformations
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capillary
cavernous cystic (hygroma) lymphangiohemangioma |
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which lymphatic malformed associated with episodic bleeding
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lymphangiohemangioma
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which lymphatic malformation most common on tongue or FOM
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capillary
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which LM is associated with location in posterior triangle of neck
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cystic hygroma
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which LM is more likely to rapidly enlarge during URI
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lymphangiohemangioma
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an infant has left-sided suprahyoid lymphatic malformation. Using DeSerres classifications, what class?
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II
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what are the indications for definitive treatment of lymphatic malformations
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when vital structures endangered
episodic hemorrhage occurs macroglossia |
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which LM are less likely to respond to sclerosis with OK-432 (Picibanil)
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microcystic
previously operated on massive craniofacial involvement |
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what condition is seen in adolescent pts with severe, frequently occuring epistaxis and AV malformations
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hereditary hemorrhagic telangiectasia (HHT)
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what are the advantages of using argon plasma coagulation for tx of HHT
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noncontact
controlled tissue penetration no laser safety measures required low thermal damage inexpensive |
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what are 3 most common causes of stridor in kids
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laryngomalacia
vocal cord paralysis congenital subglottic stenosis |
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what are the 3 modes of supraglottic obstruction causing laryngomalacia
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-prolapse of mucosa overlying arytenoids
-foreshortened aryepiglottic folds -posterior displacement of epiglottis |
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what is the incidence of synchronous airway lesions in kids with laryngomalacia
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20%
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what percent of kids with laryngomalacia require surgical treatment
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10%
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what are the indications for surgical tx of laryngomalacia
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dyspnea at rest
feeding difficulties failure to thrive |
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what is the relationship between laryngomalacia and GERD
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all kids with laryngomalacia have GERD
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What % of kids with choanal atresia have other congenital anomalies
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50%
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what % of cases of choanal atresia are bilateral
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40%
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persistence of what membrane results in choanal atresia
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buccopharyngeal
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what percent of choanal atresia involve only mucosal diaphragm or membrane
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10%
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what percent of congenital VC paralysis are bilateral
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20%
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what percent of congenital VC paralysis require trach
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90%
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what is the most common neurologic condition causing VC paralysis in kids
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Arnold-Chiari malformation
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What effect does timing of treatment for Arnold-Chiari have on the outcome of VC paralysis?
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If ICP is normalized within 24hr, VC function will recover within 2 weeks in most pts
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what is recovery rate for idiopathic VC paralysis in kids
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20%
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birth trauma accounts for what percent of VC paralysis in kids
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20% (forceps and c-section)
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where do most laryngeal webs occur
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anterior glottis (75%)
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when is the typical onset of symptoms in pts with subglottic hemangioma
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asx at birth, with sx by 6mo
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what is the most common vascular ring
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innominate artery compression
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what is the most common anomaly associated with congenital tracheal stenosis
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abberrant left pulmonary artery
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what syndrome is characterized by hypernasal speech, cardiac malformations, cleft palate, medial displacement of carotid arteries
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velocardiofacial syndrome
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what syndrome, characterized by deletion of band 11 on chromosome 22, is contraindication to adenoidectomy
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VCFS
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what is platybasia
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phenotypic characteristic of VCFS where the cranial base is angled obtusely, resulting in expanded velopharyngeal volume and incomplete velopharyngeal closure
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what is the differential of midline neck mass in a child?
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thyroglossal duct cyst (most common)
dermoid cyst ectopic thyroid tissue lymphaenopathy lipoma hemangioma fibroma |
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what is the etiology of TGDC
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persistent connection btwn base of tongue and descended thyroid gland
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why do some people recommend radioisotope scanning or ultrasound prior to removal of TGDC
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to prevent inadvertent removal of only functioning thyroid tissue
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what percent of TGDC contains thyroid tissue
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20%
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what is the incidence of carcinoma arising in a TGDC
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<1%
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what is the etiology of preauricular pit
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failure of fusion between Hillocks 1, 2
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what % of preauricular pits are bilateral
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20%
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what is the etiology of a type 1 first brachial cleft cyst
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duplication error of the ectodermal elements of the EAC
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what is the etiology of a type 2 first brachial cleft cyst
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duplication error of the ectodermal and mesodermal elements of the EAC
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where are most type 1 cysts located
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preauricular region
lateral to VII connecting skin to EAC |
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where are most type 2 cysts located
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just inferior or posterior to angle of mandible
variable relationship to VII |
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where are most 2nd brachial cleft cysts located
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below angle of mandible
anterior to SCM |
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what is the typical course of the tract of 2nd brachial cleft cysts
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-pass superiorly and laterally to IX, XII
-pass btwn internal and external carotid -terminate close to middle constrictor muscle or may open to tonsillar fossa |
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what is the typical course of 3rd brachial cleft cysts
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-ascend lateral to common carotid
-poster to internal carotid -superior to XII -inferior to IX -pierce thyrohyoid membrane superior to internal branch of superior laryngeal nerve |
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what is the typical course of the trace of left 4th brachial cleft cyst
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-apex of pyriform sinus
-descend lateral to RLN into thorax -loop aortic arch -ascend to neck post to CC artery -cross XII -descend to ant/inf part of SCM |
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what is the typical course of the tract of right 4th brachial cleft cyst
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loop around subclavian instead of aorta
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what inflammatory dx is associated with 3rd/4th brachial arch anomalies in kids
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recurrent acute suppurative thyroiditis
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which organisms cultured in acute suppurative thyroiditis
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E coli
Klebsiella Proterus Clostridium |
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what are 4 types of germ cell tumors
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dermoid cyst
teratoid cyst teratoma epignathus |
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which of these are composed only of mesoderm and ectoderm
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dermoid cysts
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where are dermoid cysts most commonly found in head and neck
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submental area
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how can one differentiate dermoid cyst from TGDC
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dermoid cyst will not elevate with tongue protusion
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what is the characteristic feature of teratoid cyst
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very poor differentiation of all 3 germ layers
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what differentiates teratoid cyst from teratoma
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germ layers are well differentiated in teratomas such that recognizable organs maybe found
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what percent of teratomas become malignant
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20%
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what prenatal condition is associated with a higher incidence of cervical teratoma
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maternal polyhydramnios
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which brachial pouch is the thymus derived from
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3rd
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what is the term for connection of the 3rd brachial pouch to the thymus gland as it descends into the thorax
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thymopharyngeal duct
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what is the etiology of cervical thymic cysts
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persistent thymopharyngeal duct
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what is a thornwaldt's cyst
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cyst in the nasopharyngeal bursa secondary to persistent embryonic communication btwn anterior tip of notochord and nasopharyngeal epithelium
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what are the three most common congenital midline nasal masses
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encephalocele
glioma dermoid cyst |
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which midline nasal mass has intracerebral connection
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encephalocele
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what percent of gliomas have a fibrous tract connecting to the subarachnoid space
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15%
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which chromosome carries gene for CF
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long arm chromosome 7
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T/F frontal sinus hypoplasia is common in pts with CF
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true
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what percent of caucaisans carry gene defect for CF
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5%
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what is the incidence of congenital hearing loss
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1:1000
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what percent of congenital HL is hereditary
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60%
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what percent of hereditary HL cases are syndromic
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30%
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what is the typical inheritance pattern of syndromic HL
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AD
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what are the typical patterns of nonsyndromic HL
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10-20% AD
75% AR 2-3% x-linked <1% mitochondrial |
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what genetic mutation is thought to be responsible for 50-80% of all AR hearing loss
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mutation in DFNB1 gene on chromosome 13q encoding for connexin 26
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what percent of sporadic cases of congenital HL are caused by connexin mutation
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27%
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T/F 1/31 people are carriers for the connexin 26 mutation
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True
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what is the function of connexin 26
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formation of gap junctions in the stria vascularis, basement membrane, limbus, spiral prominence of cochlea
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what is the typical severity and pattern of AD hearing loss
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less severe
delayed onset high-frequency HL |
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what is the typical severity and pattern of x-linked HL
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prelingual
clinically diverse HL |
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what is the term for complete agenesis of the petrous portion of the t-bone
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Michel aplasia
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what is the term for a developmentally deformed cochlea where only the basal coil is identified
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Mondini aplasia
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what is the most common form of inner ear aplasia
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scheibe aplasia
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which inner ear aplasia will not allow cochlear implant
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Micel aplasia
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mutation of gene associated with enlarged vestibular aqueduct
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pendrin chromosome 7q31
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what inner ear malformation is associated with early onset SNHL usually bilateral, progressive, vertigo
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enlarged vestibular aqueduct
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which semicircular canal forms first? Last?
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superior canal 1st
lateral canal last |
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T/F: SSCC deformities are always accompanied by lateral SCC deformities
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True
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what syndrome accounts for most common form of hereditary congenital deafness
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Waardenburg's
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what is the incidence of waardenburg's syndrome
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1/4000
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what are 4 clinical types of Waardenburg's
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1. SNHL, heterochromia irides, pigment, dystopia cantho
2. above but without heterochromia irides 3. Klein-Waardenburg: microcephaly, mental retardation, limb abnormalities +1 4. Shah Waardenburg: 2+hirshprungs disease |
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what genetic mutation is responsible for most cases of types 1 & 3 Waardenburgs
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Mutation of PAX3 on chromosome 2q37
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what is dystopia canthorum
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shortened and fused medial eyelids resulting in small medial sclera, lateral displacement of inferior punts, hypertelorism
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describe Stickler syndrome
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-cleft palate
-micrognathia -myopia -retinal detachment -cataracts -Marfanoid habitus -hearing loss |
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what genetic mutations are responsible for most cases of Stickler
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COL2A1 gene on chromosome 12
COLIIA2 gene on chromosome 6 |
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what syndrome is characterized by SNHL and retinitis pigmentosa
|
Usher's syndrome
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what are 3 clinical sybtypes of ushers
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1: severe hearing loss, no vestibular fxn, retinitis pigm
2: moderate hearing loss, normal vestib fxn, retinitis 3: progressive HL |
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what is the most common syndromic casuse of HL
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Pendred syndrome (10%)
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what inner ear malformations are more common in pts with Pendred
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Mondini aplasia
enlarged vestibular aqueduct |
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What gene is associated with both Pendred and enlarged vestibular aqueduct
|
PDS gene for pendrin protein
chromosome 7q31 |
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what are the clinical features of Alport
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SNHL
renal failure (hematuria) |
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what is the basic defect causing Alport
|
mutation of the COL4A5 gene
type IV collagen in basement membrane |
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what syndrome is characterized by hearing loss, renal defects, cervical fistula
|
brachiootorenal
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what is the inheritance pattern of brachiootorenal
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AD
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what percent of brachiootorenal have hearing loss
|
80%
(50% mixed, 30% conductive, 20% SNHL) |
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What gene is responsible for brachiootorenal
|
EYA1 on chromosome 8q13.3
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what are the clinical features of Jervell and Lange-Nielsen's syndrome
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prolonged QT
syncope sudden death HL |
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what is the basic defect causing Jervell and Lange-Nielsen's syndrome
|
abnormal potassium channels
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what percent of patients with NF1 have acoustic neuroma
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5%, unilateral
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what percent of pts with NF2 have acoustic neuroma
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95%, bilateral
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which type of NF has cutaneous neurofibromas
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type I
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what genetic mutation is responsible for NF1
|
NF1 gene
chromosome 17q11.2 |
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what genetic mutation is responsible for NF2
|
NF2 gene
chromosome 22q12.2 |
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what is the name for the subtype of osteogenesis imperfects with progressive HL beginning in childhood
|
Van der Hoeve's syndrome
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what genetic mutations are though to be responsible for osteogenesis imperfecta
|
mutation on COLIA1 gene on chromosome 17q
COLIA2 gene on chromosome 7q |
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what dx is characterized by cranial synostosis, exopthalmos, parrot-beak nose, hypoplastic mandible
|
Crouzon's dx
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what is basic defect of Crouzon's
|
abnormal fibroblast growth factor receptors
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what is Norrie syndrome
|
x-linked dx characterized by blindness, progressive mental retardation, HL
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what syndrome is characterized by hypertelorism, short stature, broad fingers/toes, cleft palate, CHL
|
otopalatodigital syndrome
|
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what x-linked syndrome is associated with Klippel-Feil syndrome, SNHL, cranial nerve VI paralysis
|
Wildervanck syndrome
|
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what dx is:
lower lid colobomas downward palpebral fissures hypoplastic mandible malformations external ear cleft palate HL |
treacher-collins
|
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what inheritance pattern is treacher-collins
|
AD
|
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what genetic mutation is responsible for treacher-collins
|
TCOF1 on chromosome 5q
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what protein does TCOF1 produce
|
treacle
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what do Keams-Sayre, MELAS, MERRF, and Leber's hereditary optic neuropathy have in common
|
all mitochondrial dx with HL
|
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what organism is most commonly associated with virus-induced congenital deafness
|
CMV
|
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what percent of kids with congenital CMV have HL
|
10% born with HL
10-15% eventually develop HL |
|
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What manifestation of congenital syphilis is most commonly related to SNHL
|
interstitial keratitis
|
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what are the three classic findings of congenital rubella syndrome
|
SNHL
cataracts heart malformations |
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if one parent and one sibling are deaf, what is the risk of hearing loss for subsequent offspring
|
40% risk
|
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what percent of infants with significant congenital hearing loss will not have risk factors
|
50%
|
|
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what is the incidence of congenital aural atresia
|
1:10,000-20,000
|
|
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what percent of congenital aural atresia is bilateral
|
33%
|
|
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what does stenosis of the EAC predispose to?
|
Canal cholesteatoma
|
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which portion of the ossicular chain is least likely to be malformed in pts with congenital aural atresia
|
stapes footplate
|
|
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what is the incidence of FN displacement in congenital aural atresia
|
25-30%
|
|
|
what is congenital cholesteatoma
|
embryonal inclusion of undifferentiated squamous epithelium in the middle ear behind an intact TM
|
|
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other than middle ear, where else may congenital cholesteatoma arise
|
petrous apex
CPA mastoid EAC |
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what percent of congenital cholesteatomas are bilateral
|
3%
|
|
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mean age of presentation for congenital cholesteatoma
|
4.5 yrs
|
|
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T/F: the mastoid bones of pts with congenital cholesteatoma are most often well aerated
|
True
|
|
|
what is cause of congenital malleus ankylosis
|
poor development of epitypmpanic space leaves head of incus and malleus in close contact with the tegmen. a bony bridge can result between epitympanum and head of malleus
|
|
|
T/F: histologically, the bony structures are normal without evidence of otosclerosus in ases of malleus ankylosis
|
True
|
|
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what is the optimal treatment of malleus fixation
|
removal of head of malleus and interposition of the incus between the manubrium and the stapes head.
|
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|
what genetic defect results in either Jansen's chondrodystrophy or Blomstrand's chondrodystrophy.
which is lethal prenatally |
mutation of type 1 parathyroid hormone receptor
Blomstrands is lethal pre-natally. |
|
|
what is ciliary defect in Kartageners
|
absence of dynein side arms on A-tubules
|
|
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what is most common site of CSF leakage from inner ear to middle ear in kids
|
oval window (especially with Mondini malformation)
|
|
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What area the two types of congenital defects that lead to spontaneous CSF otorrhea.
Which is associated with meningitis? |
-preformed bony pathway around bony labyrinth (associated with meningitis)
-aberrant arachnoid granulations |
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How does defect caused by arachnoid granulations usually present?
|
age 50 as unilateral serous otitis
|
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why does spontaneous CSF otorrhea present late when caused by arachnoid granulations
|
arachnoid granulations get larger over time
CSF pressure can cause bony erosion |
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what syndrome has recurrent episodes of vertigo and ataxia in several members of a family
|
familial ataxia syndrome
|
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familial ataxia syndrome: of the four variants of this syndrome, which does not respond to acetazolamide
|
EA3
|
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familial ataxia syndrome: which of the 4 variants caused by mutations in potassium channel gene?
|
EA1
|
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familial ataxia syndrome: what are two most common variants
|
EA1
EA2 |
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familial ataxia syndrome: which is associated with vertigo and results from calcium channel mutations
|
EA2
|
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familial ataxia syndrome: what is gene mutation behind EA1
|
potassium channel gene
|
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familial ataxia syndrome: which variant is associated with migraine
|
EA2
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