Head and Neck Flashcards
Pyriform aperture stenosis
Results from early fusion and hypertrophy of the medial nasal processes.
Associations:
- Alobar and semilobar forms of holoprosencephaly
- Pituitary dysfunction
- Central megaincisor (in 75% of cases)
- Clinodactyly
- Facial hemangiomas
Coanal atresia
CHARGE
DiGeorge (22q11.2), Crouzon, Fetal alchol syndrome and Treacher Collins syndrome
90% osseous, 10% membranous.
Thickening of Vomer
General pathogenesis includes: Teratogenic effects caused by early pregnancy use of antithyroid drugs 8
CHARGE syndrme
C: Coloboma H: Heart defects A: Atresia coanal or cleft palate R: Retarded growth G: Genitourinary abnormalities E: Ear abnormalities
Crouzon syndrome
- abnormal calvarial shape: in severe case can give a “cloverleaf skull”
- shallow orbits with exophthalmos
- mid facial hypoplasia
- bifid uvula
autosomal dominant inheritance due to a mutation in fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10q25-26.
Associations:
- Chiari I malformations 3: may be present in ~70% of cases
- hydrocephalus
- stylohyoid ligament calcification: may be present in ~50% of patients over 4 years old 3
- cervical spine abnormalities
- cervical spine fusion
- elbow malformations
- hand deformities
- agenesis of corpus callosum
DiGeorge syndrome
Velocardiofascial syndrome, 22q11.2 deletion syndrome
Clinical manifestations cleft lip +/- palate congenital heart disease (particularly conotruncal anomalies): often a major part of this syndrome tetralogy of Fallot interrupted aortic arch truncus arteriosus characteristic facies elongated face short philtrum facial asymmetry prominent nose hypernasal speech learning disabilities decreased immunity malformation of third and fourth pharyngeal pouches that result in the defective development of the parathyroid and thymus which can, in turn, lead to hypoparathyroidism hypocalcemia
Associations
Mondini malformation
choanal atresia
Trecher Collins syndrome
First and second brachial arches malformations.
Conductive hearing defects
Dental and mandibular
- retrognathia, micrognathia, macrostomia
hypoplasia or aplasia of the condylar and coronoid processes of the mandible.
marked bowing of the lower border of the mandible
- concave curvature of the horizontal ramus of the mandible is pathognomonic
- may be associated with cleft palate and absence of parotid glands
Zygomatic arch: malformed, underdeveloped or absent
Otic
- microtia and aplasia of the external auditory meatus
- hypoplasia of the middle ear cavity
- hypoplasia or aplasia of the middle ear ossicles
Nasal
- obliteration of the nasofrontal angle with narrow nares
- hypoplasia of the alar cartilages
- hypoplastic paranasal sinuses
ocular
- downward slanting palpebral fissures, due to lack of support from zygoma
- absent eyelids of the lower inner third of the eye
- notched iris
- notched choroid and colobomas
Congenital dermoid sinus with dermmoid/epidermoid cyst
CT and MR imaging are useful and have complementary roles in the evaluation of nasal dermoids.
CT images depict the bone detail and can show a large (>3 mm in diameter) foramen cecum and/or a bifid or deformed crista galli in the case of intracranial extension.
A dermoid cyst, which has the density of fat, or an epidermoid cyst, which has the density of water.
Nasal glial heterotopia (Nasal glioma)
Extranasal gliomas clinically present in early infancy or childhood as a firm, red to bluish skin-covered mass. These masses will not exhibit pulsations or increase in size with the Valsalva maneuver
Intranasal gliomas present as large, firm, submucosal masses that extend inferiorly, toward or near the nostril.
Nasal encephalocele
It presents as an external swelling on the nose. The swelling is usually soft, with normal overlying skin, and increases in size on coughing/straining.
Southeast Asia.
Facial clefts, callosal issues, interhemispheric lipomas.
Hang in the superomedial nasal cavity: DIsplaces Nasal CAtheter LATERALLY
Dacryocystocele
Imperforated Hasner valve: Distal blockage
Unknown: Proximal blockage.
. Dacryocystoceles may be unilateral (75%) or bilateral (25%) and have no sex predilection. Secondary dacryocystitis may develop 5.
Craniofascial syndrome
Aperts
Trecher Collins
Crouzans
Ectopic thyroid tisse
I-123 or Tc MIBI scan»»>CT» US.
Thyroglosal duct cysts
Midline neck
Enhancing nodule= Papillary thyroid cancer
Sistrunk procedure
Dermoid cyst
Midline submandibular/sublingual
“Sac of marbles”:Lobules of fat
Branchial cleft cyst
Angle of the mandible/Lateral
Ant to the sternocleido, posterolateral to the parotid gland.
Second branchial cleft cyst is the most common.
Dif Diag: Necrotic lymph node
Phlebectasia
phlebectasia usually presents as a neck mass that enlarges with Valsalva maneuver.
PHACE syndrome
PHACE syndrome, also known as cutaneous hemangioma–vascular complex syndrome or Pascual-Castroviejo type II syndrome, is a phakomatosis that comprises of:
P: posterior fossa malformations (e.g. Dandy-Walker malformation)
H: hemangiomas
A: arterial anomalies
C: coarctation of the aorta and cardiac anomalies
E: eye (ocular) anomalies
Clinical diagnosis of PHACE syndrome requires the presence of a characteristic segmental hemangioma or hemangioma >5 cm on the head (face or scalp)
Cystic hygroma (lymphangioma)
Turner, down syndrme, aortic coarctation
Spetation: Worse prognoss.
Management may be by surgical excision or by injection with OK-432, a preparation containing Streptococcus pyogenes antigens, which induces an inflammatory response and subsequent obliteration of the abnormal cavities. Most fetuses with cystic hygromas have a poor prognosis although it may improve in utero on its own in a tiny proportion of cases. Spontaneous remission does not necessarily exclude an abnormal karyotype.
Fibromatosis coli
Baby looks away from the lesion.
Two bellies for the SCM muscle.
right sternocleidomastoid muscle is more commonly affected (73% of the time).
If calcified consider cancer.
