craniofacial/peds Flashcards
First (mandibular) arch
Think MMATT: Muscles of mastication, Mylohyoid, Anterior digastric, Tensor tympanic, Tensor veli palitini
a. Nerve: trigeminal nerve (ophthalmic, maxillary, mandibular branches)
b. Muscles: Muscles of mastication (temporalis, masseter, medial and lateral pterygoids), mylohyoid, anterior digastric, tensor tympanic, tensor veli palatini
c. Cartilage: premaxilla, maxilla, zygomatic, part of temporal, incus, malleus, anterior malleolar ligament, sphenomandibular ligament
d. Pharyngeal pouch and groove: tubotympanic recess (tympatic cavity, mastoid antrum, pharyngotympanic tube, internal acoustic meatus, tympanic membrane, adenoids)
e. Vascular: maxillary and external carotid arteries
Second (hyoid) arch responsible for 95% branchial anomalies
Think PS: Posterior digastric, Platysma, Stylohoid, Stapedius
a. Nerve: facial
b. Muscles: facial expression, buccinators, stapedius, stylohyoid, posterior digastric, auricular, platysma
c. Cartilage: Reicherts cartilage (stapes, styloid process, stylohyoid ligament, lesser cornue and upper part of body of hyoid)
d. Pharyngeal pouch and groove: palatine tonsil and cervical sinus
e. Vascular: stapedial and hyoid arteries
Third arch
a. Nerve: Glossopharyngeal
b. Muscles: stylopharyngeus
c. Cartilage: greater cornu and lower body of hyoid
d. Pharyngeal pouch and groove: inferior parathroids, thymus, cervical sinus
e. Vascular: internal carotid and common carotid arteries
Fourth arch
a. Nerve: vagus (superior laryngeal, inferior laryngeal)
b. Muscle: cricothyroid, intrinsic muscles of soft palate (levator veli palatini)
c. Cartilage: thyroid, epiglottic
d. Pharyngeal pouch and groove: superior parathyroids, thyroid parafollicular cells
e. Vascular: subclavian artery, aortic arch
Sixth arch
a. Nerve: recurrent laryngeal nerve from vagus
b. Muscles: intrinsic muscles of larynx such as thyroarytenoid (except cricothyroid-4th arch)
c. Cartilage: cricoid, arytenoid, corniculate, cuneiform
d. Vascular: right and left pulmonary arteries and ductus arteriosus
Branchial clefts
- Becomes external auditory canal
- Failure of cervical sinus from cleft 2 to disappear results in branchial cleft cyst, sinus tract or fistula on anterior boarder of the SCM. Runs over the glossopharyngeal nerve, between the external carotid artery and internal carotid artery
- Note that thyroglossal duct cysts are midline and result from failure of obliteration of the foramen cecum at the base of the tongue.
Branchial pouches:
- Internal auditory canal
- Palatine tonsil
- Inferior parathyroid and thymus
- Superior parathyroid
- Thyroid C-cells
Germ layers
A. Ectoderm: skin (epidermis and appendages), mammary glands, CNS/PNS and neural crest cells
B. Mesoderm: bone, cartilage, muscle, connective tissue and dermis, heart, blood vessels, blood, reproductive organs, GU system
C. GI and respiratory tracts, digestive organs
FGFR gene syndromes
a. Pfeiffer syndrome: brachycephaly, mild syndactyly, broad toes and thumbs, normal mental status, chiari, hypertelorism, down slanting palpebral fissures
b. Apert syndrome: brachycephaly, syndactyly and cognitive delay, autosomal dominant, acne, enlarged fontanel
c. kallman syndrome: hypogonadotrophic hypogonadism with anosmia, cleft lip/palate, renal aplasia/agenesis, dental defects
d. Crouzon syndrome: autosomal dominant, shallow orbits (exposure keratitis), craniosynostosis, maxillary hypoplasia, chiari
e. Antley-Bixter: can be associated with FGFR. Craniosynostosis, choanal atresia, radiohumeral synostosis
f. Muenke: coronal synostosis, sensorineural hearing loss, abnormal middle phalanges
van der Woude syndrome
lower lip pits and cleft lip/palate, IRF6 mutation (also mutation for Popliteal pterygium syndrome: webbing behind knee, lower lip pits, cleft lip/palate) autosomal dominant
Saethre-Chotzen syndrome
TWIST autosomal dominant, normal mental status, asymmetric brachycephaly, eyelid ptosis, narrow palate, low hairline, prominent helical crus
Carpenters syndrome
autosomal recessive, mental impairment, brachychephaly, ventricular septal/atrial septal defects, possible venous and bony abnormalities, low set ears.
Gorlin syndrome/basal cell nevus syndrome
AD: PTCH1 on chromosome 9q22.3-q31 basal cell carcinomas odontogenic keratocysts palmar and plantar pits calcification of falx cerebri bifid ribs hypertelorism broad nasal root
22q11.2 deletion/DiGeorge/velocardiofacial
CATCH (cardiac anomalies, abnormal facies, thymic aplasia, cleft palate, hypocalcemia/hypoparathyroidism)
Trisomy 13/Patau syndrome
cleft palate, CNS disorders, microcephaly, polydactyly, rocker bottom feet, urogenital defects, cardiac anomalies
branchio-oto-renal syndrome
EYA1 and SIX1 autosomal dominant. Auricular malformations, preauricular skin pits, hearing loss, branchial fistulae, external auditory canal stenosis, renal anomalies
VACTERL
vertebral defects, anal atresia, cardiac defects, trachea-esophageal fistula, renal anomalies, limb anomalies.
CHARGE
coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth/development, genital/urinary abnormalities, ear abnormalities/deafness, also cleft lip/palate in up to 20% of patients. Mutation in CHD7 (chromodomain helicase DNA-binding protein 7)
Beckwith-Wiedemann syndrome
macrostomia, omphalocele, macroglossia, auricular abnormalities (ear folds). chromosome 11 mutation
Neurofibromatosis 1
Autosomal dominant. café-au-lait spots, axillary freckling, skeletal dysplasias (absence of greater wing sphenoid), nervous system tumors (neurofibromas), tumor on optic nerve, high blood pressure, scoliosis, optic nerve tumors, Lisch nodules, learning disabilities, ADHD, Macrocephaly, short stature. Three types of neurofibromas (localized, plexiform, diffuse) pathologically spindle cells and mast cells in collagenous myxoid stroma.
Neurofibromatosis 2
central nervous system tumors. Grow in prepubescent ages.
Osler-Weber-Rendu/Hereditary hemorrhagic telangiectasia
autosomal dominant ENG mutation. malformed ecstatic vessels in skin, mucosae of naso and oropharynx, pulmonary, GI/hepatic and CNS -> bleeding, anemia, stroke
appear later in life
Bannayan-Riley-Ruvalcava syndrome
PTEN autosomal dominant, macrocephaly, genital lentiginosis (speckled penis), GI polyps
Stickler syndrome
COL2A1 autosomal dominant mutation in gene for type II collagen ocular problems (retinal detachement, myopia, blindness) facial abnormalities (flat nose, small mandible, cleft palate) hearing loss degenerative joint disease
CLOVES syndrome
(congenital lipomatous overgrowth, vascular malformations, epidermal nevi/skeletal anomalies/scoliosis syndrome). PIK3CA mutation: overgrowth syndrome with vascular malformations. Get MRI to rule out CNS AVM.
Goldenhar syndrome
sporatic hemifacial microsomia epibulbar dermoids vertebral anomalies anterior accessory auricular appendages low hairline
Nager syndrome
autosomal recessive, hypoplasia of orbits, zygoma, maxilla, mandible, soft palate, auricular defects, hypoplasia of radius, thumbs and metacarpals, radioulnar synostosis, elbow joint deformities.
Treacher Collins
hypoplasia of zygoma, maxilla, mandible, downward slanting palpebral fissures, colobomas, absence of eyelashes, auricular defects.
Fibrous dysplasia
overgrowth of bones due to abnormal proliferation of bone-forming mesenchyme
McCune-Albright
fibrous dysplasia, precocious puberty, café-au-lait spots
Klippel-Feil syndrome
congenital fusion of any two cervical vertebrae. Short neck, low occipital hairline, restricted mobility of upper spine.
Paget disease
enlarged, deformed bone. Diagnosed 3-4th decade with blood test for alkaline phosphatase.
Kabuki syndorme
long palpebral fissures, everted lower lids, broad nasal tip, arched brows, protruding ears, intellectual disability, microcephaly
Periapical cysts
most common, usually for from necrotic pulp after tooth infection. Radiologic lucency at the apex of the tooth with sclerotic rim. Painless. Fibrous shell lined with nonkeratinizing stratified squamous epithelium infiltrated with chronic inflammatory cells.
