CAS 14 Topic 1
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| How does DiGeorge syndrome present clinically? | show 🗑
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| What is the embryological defect implicated in 22q11.2 deletion syndrome? | show 🗑
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| What embryonic structures fail to fuse in patients with an anterior cleft palate? | show 🗑
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| show | Lateral palatine shelves, nasal septum. and medial palatine processes
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| What embryonic structures fail to fuse in a congenital cleft lip? | show 🗑
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| show | Lateral palatine shleves do not fuse with each other and the nasal septum
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| show | Anti-epileptic medications (e.g. phenytoin and carbamazepine), maternal ethanol consumption, excessive or inadequate levels of retinoic acid
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| show | Incisive foramen
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| show | Unilateral cleft lips
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| show | A combination of both anterior and posterior palatal defects.
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| show | Trisomy 13 (Patau syndrome)
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| Can you name four features of velocardiofacial syndrome? | show 🗑
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| show | Congenital heart disease
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| show | Weeks 4-6 of fetal development
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| show | T cells
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| show | PCP and Candida
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| show | Hypoparathyroidism and hypocalcemia; the latter may present as tetany.
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| Which 2 organs do patients with DiGeorge syndrome lack? | show 🗑
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| show | Absent thymic shadow
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| show | Feto-placental insufficiency, asphyxia (with and without meconium), intrauterine infection
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| show | Shoulder dystocia, neurologic birth injury, meconium aspiration, persistent pulmonary hypertension, perinatal asphyxia
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| How does a post-term infant with fetal growth restriction present? | show 🗑
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| Why does fetal growth restriction occur in post-term infants? | show 🗑
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| show | Macrosomia
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| How is post-term birth defined? | show 🗑
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| What is the optimal intervention for post-term births? | show 🗑
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| show | Macrosomia or fetal growth restriction
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| What five structures are derived from neural crest cells of pharyngeal arch 2? | show 🗑
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| Which muscles are derived from the mesoderm of pharyngeal arch 4? | show 🗑
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| show | Intrinsic muscles of larynx (except cricothyroid), and upper muscles of the esophagus
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| show | Muscles of mastication (temporalis, masseter, medial and lateral pterygoids), mylohyoid, anterior belly of digastric, tensor veli palatini, and tensor tympani
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| show | Hydrocephalus, facial nerve palsies, facial abnormalities (e.g. cleft palate, small ears), cardiac abnormalities (e.g. transposition of the great vessels, tetralogy of Fallot), thymic & parathyroid abnormalities, and spontaneous abortion
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| Which bones are derived from the neural crest cells of pharyngeal arch 1? | show 🗑
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| show | Muscles of facial expression, posterior belly of the digastric, stylohyoid, and stapedius
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| Which arteries are derived from the mesoderm of pharyngeal arch 4? | show 🗑
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| show | Greater horn and lower body of the hyoid bone
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| show | Stylopharyngeus muscle
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| What germ cell layers are contained within the pharyngeal arches? | show 🗑
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| What structures are derived from the neural crest cells of pharyngeal arch 6? | show 🗑
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| Which 2 arteries are derived from the mesoderm of pharyngeal arch 2? | show 🗑
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| Which artery are derived from the mesoderm of pharyngeal arch 1? | show 🗑
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| show | V2 (sensory branch only) and V3 of the trigeminal nerve
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| show | Ductus arteriosus and the pulmonary arteries
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| show | Recurrent laryngeal branch of cranial nerve X
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| What structure is derived from the neural crest cells of pharyngeal arch 4? | show 🗑
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| show | Cranial nerve VII
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| Which arteries are derived from the mesoderm of pharyngeal arch 3? | show 🗑
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| What are the four embryonic components of the pharyngeal apparatus? | show 🗑
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| show | A development abnormality of the first pharyngeal arch that is caused by mandibular hypoplasia that occurs before the ninth week of development.
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| show | Micrognathia (small mandible), glossoptosis (posteriorly displaced tongue), cleft palate (posteriorly displaced tongue prevents palatal closure), airway obstruction (due to prolapse of posteriorly displaced tongue)
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| What is Treacher Collins syndrome? | show 🗑
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| show | Superior laryngeal branch of cranial nerve X
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| show | Lined by endoderm internally (aka pharyngeal pouches) and ectoderm externally.
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| show | Pharyngeal arch 5
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| show | Cranial nerve IX
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| Which family of transcription factors regulates segmentation of the embryo craniocaudally, limb formation patterning, neural crest cell migration & differentiation, and branchial (pharyngeal) arch patterning? | show 🗑
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| show | Retinoic acid (vitamin A)
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| show | From the incomplete obliteration of the pharyngeal grooves/clefts 2, 3, 4 leaving a remnant at the angle of the mandible.
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| What two structures are derived from pharyngeal pouch 4? | show 🗑
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| What structure is derived from pharyngeal membrane 1? | show 🗑
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| show | Along the anterior border of the sternocleidomastoid muscle.
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| show | Epithelial lining of the palatine tonsil
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| Pharyngeal fistulas commonly result from persistence of which embryonic structure? | show 🗑
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| show | Become the temporary cervical sinus and are eventually obliterated due to expansion of mesenchyme of the 2nd arch.
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| show | Are obliterated
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| What three structures are derived from pharyngeal pouch 1? | show 🗑
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| show | Epithelial lining of the external auditory canal
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| Where are ectopic thymic and parathyroid tissue usually found in an adult? | show 🗑
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| Which embryonic germ layers give rise to pharyngeal clefts, arches, and pouches, respectively? | show 🗑
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| show | Inferior parathyroid glands (dorsal wing) and thymus (ventral wing)
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| show | Maxillary nerve (CN V2)
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| The tensor veli palatini is innervated by a branch of which cranial nerve? | show 🗑
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| Which muscle forms the bulge in the lateral wall of the nasopharynx known as the torus levatorius? | show 🗑
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| Which muscles both compose and have action on the soft palate? | show 🗑
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| What composes the anterior 2/3 of the palate? | show 🗑
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| show | Inserts into the uvula and acts to elevate and laterally deviate the uvula. It is innervated by the vagus nerve (CN X).
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| The greater palatine nerve relays sensory information from which region of the palate? | show 🗑
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| What is the function of the tensor veli palatini? | show 🗑
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| What is the function and innervation of the levator veli palatini? | show 🗑
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| What structures does the palate separate? | show 🗑
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| show | Soft palate
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| show | Cleft palate
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| What plexus of arteries is a frequent site of epistaxis (nose bleeds)? | show 🗑
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| show | Anterior/inferior quadrant of the nasal septum
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| What arteries make up Kiesselbach's plexus? | show 🗑
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| What part of the nasal cavity contains the afferent limb of cranial nerve 1, which is the olfactory epithelium? | show 🗑
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| show | Superior, middle, and inferior nasal conchae
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| What is the function of the nasal conchae | show 🗑
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| Is anterior or posterior epistaxis the most common site of severe hemorrhage? | show 🗑
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| show | Sphenopalatine artery
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| Nasal polyps in adults are associated with respiratory disease that is exacerbated by which agent? | show 🗑
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| show | Cystic fibrosis
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