Marked by CV abnormalities, characteristic facial appearance, chronic cholestasis, growth retardation, hypogonadism, MR, vertebral arch defect, temporal bone abnormalities in cochlear aqueduct, ossicles, SCC, and subarcuate fossa. Liver transplant possible tx. An autosomal recessive growth disorder. Associated with chromosomal breaks and rearrangements and unusually high rate of cancer at an early age. Associated w/ facial erythema, growth retardation, immunodeficiency, infertility, and sun sensitivity. Dx confirmed by chromosome analysis. Anomalous numbers of digits or teeth, asymmetric legs, heart malformation, hypopigmented spots in blacks, protruding ears, sacral dimple, simian line, and urethral or meatal narrowing less common. For H+N tumor pts, increased change of secondary and primary tumors. Caused by lesion of Deiters nucleus and its connection. Its sx include ocular disturbances (eg paralysis of accomodation, nystagmus, diploplia), deafness, nausea, thirst and anorexia, as well as other symptoms referable to involvement of the vagal centers, cranial nerves VIII, IX, X, XI and the lateral vestibular nucleus. Can simulate Meniere's disease. Greek "curvature of extremities." Syndrome characterized by dwarfism, craniofacial anomalies, and bowing of the tibia and femur, with malformation of other bones. The pt has cutaneous dimpling overlying the tibial bend. Respiratory distress is common, and the pt has an early demise in the 1st few months of life. ENt wise - pt have prominent forehead, flat facies w/ broad nasal bridge and low set ears, cleft palate, mandibular hypoplasia, tracheobronchial malacia that contributes to early death. Histologically, 2 temporal bones observations showed defective endochrondrial ossification w/ no cartilage cells in teh endochrondrial layer of the otic capsule. The cochlea was shortened and flattened, presenting a scalar communis. the vestibule and SCC were deformed by bone invasion. Unknown etiology. Similar clinical features w/ Pierre Robin but is different! Cavernous sinus receives drainage from the upper lip, nose, sinuses, nasopharynx, pharynx, and orbits. It drains into the inferior petrosal sinus, which in turn drains into the IJV. Cavernous sinus syndrome caused by thrombosis of cavernous intracranial sinus, 80% of which is fatal. Sx include orbital pain (V1) w/ venous congestion of the retina, lids, and conjunctiva. The eyes are proptosed w/ exophthalmos. The pt has photophobia and involvement of nerves II, III, IV, and V1. Tx of choice is AC and abx. MCC is ethmoiditis. The ophthalmic vein and A are involved as well (the nerves and veins are lateral to the cavernous sinus, and the ICA is media to it) - Coloboma of the eye - Includes coloboma of the eye (cleft of iris, retina choroid, macula, or disc), micropthalmos (small eye) or anophthalmos (missing eye) -> VISION LOSS
- Choanal atresia or stenosis - Can be stenosed or atretic -can be UL or BL, bony or membranous
- Cranial nerve abnormality - CN I (decreased smell), CN IX/X (swallowing difficulties, aspiration), CN VII (facial palsy - UL or BL)
- Outer ear - short wide ear w/ little or no lobe, snipped off helix, prominent antihelix which is discontinuous w/ tragus, triangular choncha, decreased cartilage (Floppy), often stick out, usually asymmetric
- Middle ear - malformed bones of ossicles - CHL
- Inner ear - Modini defect (small or absent semicircular canals -> balance issues and SNHL)
- Heart defects - can be any type
- Cleft lip +/- palate
- TE fistula - esophageal stenosis, tracheoesophageal fistula, H shaped TEF
- Kidney abnormalities - small kidney, missing kidney, misplaced kidney, reflux
- Genital abnormalities - males (small penis, undescended testes), females (small labia, small or missing uterus), both (lack of puberty)
- Growth deficiency - GH deficiency
- Typical CHARGE face - square face w/ broad prominent forehead, arched eyebrows, large eyes, occasional ptosis, prominent nasal bridge w/ square root, thick nostrils, prominent nasal columella, flat midface, small mouth, small chin, larger chin w/ age, assymetry even w/o CN VII palsy
- Palm crease
- Behavior - perservative behavior when young, OCD when old
Nonsphyilitic interstitial keratitis and vestibuloauditory sx. Interstitial keratitis give rise to rapid vision loss. Sx include episodic severe vertigo accompanied by tinnitus, spontaneous nystagmus, ataxia, and progressive SNHL. Remissions and exacerbations. Believed to be related to periarteritis nodosa. Eosinophilia has been reported. Pathologically, it is a degeneration of vestibular and spiral ganglia w/ edema of the membranous cochlea, SCCs, and inflammation of spiral ligament. Tx = steroids, cyclophosphamide, azathioprine, w/u for systemic vasculitis or aortitis
- Do NOT confuse w/ Meniere's disease (vestibular sx and flucatating HL) or Vogt-Koyanagi-Harada syndrome (alopecia, poliosis, exudative uveitis) or syphilis (interstitial keratitis is old and no active inflammatory changes)
TMJ abnormality usually due to impaired bite and characterized by tinnitus, vertigo, and pain in the frontal, parietal, and occipital areas w/ a blocked feeling and pain in the ear. Tx = aspirin, heat, slow exercise. Orthodontist may help the pt. TMJ differs from other joints by presence of avascular fibrous tissue covering the articulating surfaces w/ an interposed meniscus dividing the joint into upper and lower compartments. R and L TMJs act as a fuctional unit. Condyle is made up of spongy bone w/ marrow and a growth center. Condyle articulates w/ glenoid fossa. Squamotympanic fissure separates the fossa from the tympanic bone. Joint is ginglymooarthrodial joint w/ hinge and transverse movements. Temporomandibular ligament is key supporting ligament.
Boundaries of glenoid fossa:
- Ant - margins of articular eminence
- Post - squamosotympanic fissure
- Lat - zygomatic process of temporal bone
- Med - temporal spine
TMJ gets nourishment from synovial membrane which is richly vascularized and produces a mucinous like substance. Innervated by auriculotemporal nerve, masseter nerve, lateral pterygoid nerve, and temporal nerve. Supplied by superficial temporal A and ant tympanic branch of IMAX. Lateral ptyergoid protracts jaw. Masseter, medial ptyergoid, and temporalis elevate. Innervated by V3.
Familial characterized by adenoid facies, hypoplasia of mandible and maxilla, high arched palate, hypoplasia of the soft palate and uvula, microstomia, papillomatosis of lips and pharynx, scrotal tongue, multiple thyroid adenomas, BL breast hypertrophy, pectus excavatum, and liver and CNS abnormalities. Psychomotor retardation, hypotonia, short stature, microcephaly, hypoplastic midface, epicanthus, ophthalmologic abnormalities, cleft palate, congenital heart disease, abnormalities of genitalia, tapered fingers, aural atresia, and CHL. Rare, nonhereditary congenital variant of hemifacial microsomia, Goldenhar syndrome is a congential syndrome of 1st and 2nd arch. It is characterized by underdevelopment of craniofacial structures, vertebral malformations, and cardiac dysfunction. Clinical features of this syndrome are malar and maxillary hypoplasia, poor formation of EAC, supernumerary ear tags and antetragal pits, orbit, enlarged mouths, renal anomalies, and missing growth centers in the condyle, causing delayed eruption of teeth and teeth crowding. Intelligence is usually normal or mildly retarded. maxillofacial recon in young pts demands consideration of future growth and development.
Do NOT confuse w/ Treacher Collins, Berry, or Franceschetti-Zwahlen-Klein syndromes. These tend to show well-defined genetic patterns (irregular but dominant) whereas Goldenhar syndrome does not.
AKA nasopharyngeal torticollis, is the subluxation of the atlantoaxial joint and is usually associated w/ kids. Associated w/ pharyngitis, nasopharyngitis, adenotonsillitis, tonsillar abscess, parotitis, cervical abscess, and otitis media. Been known to occur after nasal cavity inflammation, tonsillectomy, adenotonsillectomy, mastoidectomy, choanal atresia repair, and excisions of a parapharyngeal rhabdomyosarcoma. Proposals for etiology include overdistension of the atantoaxial joint ligaments by effusion, rupture of the transverse ligament, excessive passive rotation during general anesthesia, uncoordinated reflex action of the deep cervical muscles, spasm of the preveretebral muscles, ligamentous relexaction from decalcification of the vertebrae, and weak lateral ligaments. Clinical features include spontaneous torticollis in a child, a flexed and rotated head w/ limited range of motion, flat face, and Sudeck sign (displacement of the spine of the axis to the same side as the head is turned). Tx includes skeletal skull traction under fluorscopic control to realign the odontoid process w/in the transverse ligament sling, followed by 6-12 wks of immobilization. Timely tx usually successful. A hereditary and sex linked disorder. Incurable syndrome involves multiple organ systems through mucopolysaccahride infiltrative cardiomyopathy and valvular disease leading to heart failure. Physical characteristics include prominent supraorbital ridges, large flattened nose w/ flared nares, low set ears, progressive corneal opacities, generous jowls, patulous lips and prognathism, short neck, abdominal protuberance, hirsutism, short stature, extensive osteoarthritis (especially in the hips, shoulders, elbows, and hands), TMJ arthritis, pseudopapilledema, and low pressure hydrocephalus. Chondroitin sulfate B and heparitin in urine, MR, beta galactoside of 3 gangliosides GM1, GM2, GM3. Compressive myelopathy may result from vertebral dislocation. High spinal cord injury is a great complication in surgery. Neurologic development is often slowed or never acquired. Abdominal abnormalities, respiratory infections, and CV troubles plague the pt. Chronic inflammatory condition occurring in subQ tissues, salivary glands, and LNs. Etiology is unknown. Histologically, there is dense fibrosis, lymphoid infiltration, vascular proliferation, and eosinophils. This is different from angiolymphoid hyperplasia w/ eosinophilia (ALHE). It is much more prevalent in people of oriental descent. Lab studies show eosinophilia and elevated IgE. DDx includes ALHE, eosinophilic granuloma, benign lymphoepithelial lesion, lymphocytoma, pyogenic granuloma, Kaposi sarcoma, hamartoma, and lymphoma. Tx includes steroids, cryotherapy, radiation, and surgery. Characterized by widely spaced eyes, prominent forehead, flat nasal bridge, midlife cleft of the secondary palate, BL dislocation of knees and elbows, deformities of the hand and feet, and spatula type thumbs, sometimes tracheomalacia, stridor, laryngomalacia, and respiratory difficulty are present. Therapy includes maintaining adequate ventilation. Caused by anaerobic, nonmotile gram negative rod, Fusobaccterium necrophorum. Can be found in normal flora of oropharynx, GI, female gential tract. Sensitive to clinda and flagyl, PCN, and chloramphenicol. Usually in young adults first presenting w/ oropharynx infection, progress to neck and parapharyngeal abscess, leading to IJV and sigmoid sinus thrombosis leading to septic embolism causing septic arthritis, liver and splenic abscess, sigmoid sinus thrombosis findings include HA, otalgia, vertigo, vomiting, otorrhea and rigors, proptosis retrobulbar pain, papilledema, and ophthalmoplegia. A lethal trait in men, it is inherited as an X linked dominant trait limited to women. Sx include multiple hyperplastic frenula, cleft tongue, dystopia canthorum, hypoplasia of nasal alar cartilages, median cleft of upper lip, asymmetrical cleft palate, digital malformation, mild MR. About 50% fo pts have hamartoma between the lobes of the divided tongue. This mass consists of fibrous CT, salivary gland tissue, few striated muscle fibers, and rarely cartilage. 1/3 of pts present w/ ankyloglossia. Characterized by skeletal dysplasia, conductive HL, cleft palate. Middle ear anomalies associated. Mode of inheritance unknown. Sx less severe in females than males. Dx is sometimes based on characteristic facies and deformities of hands and feet. Physical features include mild dwarfism, MR, broad nasal root, frontal and occiptal bossing, hypertelorism, small mandible, stubby, clubbed digits , low set and small ears, winged scapule, malar flattening, downward obliquity of eye, down turned mouth. Inner ear can have mild type Mondini dysplasia. Surgical attempts to improve HL not always recommended since certain deformities such as a missing round window, make attempts unsuccessful. Sx are dysphagia due to degeneration of esophageal muscle, atrophy of papillae of tongue, as well as microcytic hypochromic anemia. Achlorhydria, glossitis, pharyngitis, esophagitis, and fissures at the corner of the mouth also are observed. Prevalence of this dx is higher in women than men, and usually presents in pts who are in their 4th decade. Tx = iron, esophagoscopy for dilatation and rule out carcinoma of esophagus, particularly at post cricoid region. Pharyngoesophageal webs or stenosis maybe noted.
Dx can be contrasted to pernicious anemia, which is a megaloblastic anemia with diarrhea, n/v, neurologic sx, enlarged spleen, and achlorhydria. Pernicious anemia is 2/2 failure of the gastric fundus to secrete intrinsic factors necessary for vit B12 absorption. Tx = IM vit B12.
Folic acid deficiency can give rise fo megaloblastic anemia, cheilosis, glossitis, ulcerative stomatitis, pharyngitis, esophagitis, dysphagia, and diarrhea. Neurologic sx and achlorhydria are not present. Tx = folic acid.
Benign intracranial HTN. Characaterized by increased ICP w/o focal signs of neurologic dysfunction. Obstructive hydrocephalus, mass lesions, chronic meningitis, and hypertensive and pulmonary encephalopathy should be r/o. Pt is usually a young obese female w/ hx of headache, blurry vision. Facial pain and diploplia caused by UL or BL abducens nerve paralysis are less common. The CSF opening pressure is 250-600 mm of water. CSF composition, EEG, and CT scan are normal. X ray of skull may reveal enlargement of sella turcica or thinning of dorsum sellae. This simulates a pituitary tumor but pitutiary fxn is normal. Syndrome is self limited and spontaneous recovery usually will occur w/in a few months. Auscultation of ear canal, neck, orbits, and periauricular regions should be performed for dx, as well as funduscopic exam to identify papilloma. Complete audiologic eval, ENG, and radiographic exams made. Occlusion of ipsilateral jugular vein by light digital pressure should make the hum disappear by cessation of blood flow in this structure. Usually presents in middle age. Form of neurogenic orthostatic hypotension that results in failure of autonomic nervous system and signs of multiple system atrophy affecting corticospinal and cerebellar pathways and basal ganglia. Sx include postural hypotension, impotence, scpincter dysfunction, and anhidrosis w/ later progression to panautonomic failure. Such autonomic sx are usually followed by atypical parkinsonism, cerebellar dysfunction w/ debilitaiton, or both and then death. SDS should always be considered when pt displays orthostatic hypotension, laryngeal stridor, restriction in range of VC abduction (UL or BL), hoarseness, intermittent diplophonia, and slow speech rate. This syndrome is often compared with Parkinsons disease. However, SDS involves nitrostriatal, olivopontocerebellar, brain stem, and intermediolateral column of spinal cord. It is a multiple system disorder, whereas PD involves only the nitrostriatal neuronal system. Sx such as autonomic failure, pyramidial disease, and cerebellar dysfunction have been associated w/ pathology of pigmented nuclei and dorsal motor nucleus of the vagus. Vertigo, oscillopsia induced by loud noise, changes in middle ear or ICP, positive Hennebert sign, and Tullio phenomenon. Dehiscence of bone overlying superior SCC can lead to vestibular as well as auditory sx. Vestibular abnormalities include vertigo and oscillopsia (apparent motion of objects that are known to be stationary) induced by loud noises and or by manuvers that can change middle ear or ICP. Eye movements in the plane of superior canal in response to loud noises in affect ear (Tullio). Insufflation of air into the EAC or pressure on the tragus can, in some pts, result in similar abnoramlities (Hennebert sign).
The auditory abnormalities include autophony, hypersensitivity for bone conducted sounds, and pulsatile tinnitus. Pts may complain of seemingly bizzare sx as hearing their eye movements in the affected ear. May experience uncomfortable sensation of fullness or pressure in ear brought about by activities that lead to vibration or motion in long bones like running. Weber tuning fork often localizes to affected ear. Audiogram will frequently show an air bone gap in the low frequencies, and bone conduction thresholds may be better than 0 dB. Findings on audiometry can resemble otosclerosis. Some pts may have undergone stapedectomy, which does not lead to closure of air bone gap.
Acoustic reflex testing can be beneficial in distinguishing an air bone gap due to superior canal dehiscence from one due to otosclerosis. Acoustic reflexes absent = otosclerosis vs. present= SCD.
Workup with HIGH RESOLUTION CT. Conventional CT has high false positive rate. Sx due to "mobile third window" into the inner ear. VEMP testing shows lowered threshold for eliciting a VEMP response in ear affected by this disorder. VEMP response can also have a larger than normal amplitude in SCD.
Surgery via middle cranial fossa approach. Better outcomes with both plugging and resurfacing together.
Cranial polyneuropathy usually presenting as recurrent unilateral painful ophthalmolplegia. CN II, III, IV, V1, and VI maybe involved. Etiology unknown. Tendency for spontaneous resolution and recurrence. Orbital venogram may show occlusion of superior ophthalmic vein and at least partial obliteration of cavernous sinus. responds well to systemic steroids.
Erroneous dx include inflammation, tumor, vascular aneursym, thrombosis involving orbit, superior orbital fissure, anterior cavernous sinus, parasellar area, or posterior fossa. An extension of nasopharyngeal ca, mucocele, or continguous sinusitis must also be ruled out. Sources of infection in H+N region such as tonsils, can be treated, relieving pain of ophthalmoplegia.
Ulcerations of the face particularly ala nasi and histologic features such as chronic, nonspecific ulceration and crusting, erythema, tendendcy to bleed easily, and predominant granulation tissue. Whether caused by self induced trauma, surgery or any process involved w/ the trigmeninal nerve or its connections, the etiologies of nasal ulceration to be excluded w/ this syndrome are basal cell carcinoma, blastomycosis, lesihamniasis, leprous trigeminal neuritis, lethal midline granuloma, paracoccidiomycosis, post surgical herpetic reactivation, pyoderma gangrenosum, and Wegners. Tx = focus on prevention of trauma to lesion and prevention of secondary infection. Nonrandom association of verebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, renal defects, and radial limb dysplasia. Vascular anomalies such as VSD and single umbilical A, have also been associated w/ this syndrome. Vertebral anomalies consist of hypoplasia of either verebral bodies or pedicles leading to secondary scoliosis in children. Anal and perineal anomalies consist of hypospadias, persistent urachus, female pseuofermaphroditism, imperofrate anus, and GU fistulas. GI anomalies include duodenal atresia, esophageal atresia, and tracheoesophageal fistula. radial anomalies include supernumerary digits, hypoplastic radial rays, and preaxial lower extremity anomalies. Renal anomalies include aplasia or hypoplasia of kidneys w/ ectopia or fusion as well as congenital hydronephrosis and hydroureter. Hold Oram syndrome is often confused with this by VATER is random whereas Hold Oram is inhered. Syndrome formed prior to 5th week of life during organogenesis. Posterior inferior cerebellar A thrombosis or lateral medullary syndrome, Wallenberg syndrome is due to thrombosis of PICA giving rise to ischemia of brainstem (lateral medullary region). Sx include vertigo, nystagmus, nausea, vomiting, Horner syndrome, dysphagia, dysphonia, hypotonia, asthenia, ataxia, falling to the side of the lesion, and loss of pain and temp sense on ipsilateral face and contralateral side below neck. AKA craniocarpotarsal dysplasia, whistling face syndrome is mostly transmitted AD. Main features are antimongloid slant of palpebral fissures, blepharophimosis, broad nasal bridge, convergent strabismus, enophthalmos, equinovarus w/ contracted toes, flat midface, H shaped cutaneous dimpling on chin, kypohosis-scoliosis, long philtrum, mask like rigid face, microglossia, microstomia, protruding lips, small nose and nostrils, steeply inclined anterior cranial fossa on xray, thick skin over flexor surfaces of proximal phalanges, ulnar deviation, and flexion contractures of fingers.