Добавил:
Sekretar
kiopkiopkiop18@yandex.ru
t.me/Prokururor I Вовсе не секретарь, но почту проверяю
Опубликованный материал нарушает ваши авторские права? Сообщите нам.
Вуз:
Предмет:
Файл:Ординатура / Хирургия / @xirurgi_2025 / @xirurgi_2025 - 1039 - файл
.pdf
372 PART V ORALANDMAXILLOFACIALSURGERY
https://t.me/medicina_free
Table 36-2. OMENS-Plus Classification
O
(Orbit)
M
(Mandible)
E
(Ear)
N
(Facialnerve)
S
(Soft tissue structures)
Plus
(Extracranialabnormalities)
0–Normalorbit
1–Abnormalsize
2–Abnormalposition
3–Abnormalsizeandposition
0–Normalmandible
1–Hypoplasticmandibularramus
2–Hypoplasticandmalformedmandibularramus
3–Absenceoframus,glenoidfossa
0–Normalear
1–Auricularhypoplasia
2–Absenceofexternalauditorycanal
3–Absentauricleandmalpositionedlobe
0–Normalfacialnerve
1–Upperfacialnerveinvolvement
2–Lowerfacialnerveinvolvement
3–Allbranchesaffected
0–Nosofttissueabnormality
1–Minimaltissue/muscledeciency
2–Moderatetissue/muscledeciency
3–Severetissue/muscledeciency
Extracraniofacialabnormalities
• Macrostomia
• Underdevelopmentofthefacialskeleton(includingthecharacteristic hypoplastic mandible)
andassociatedmuscles,softtissues,andTMJs
• Congenitalheartdefects
Othernamesincludehemifacialmicrosomia,otomandibulardysostosis,andlateralfacialdysplasia,
andCFMmoreaccuratelydescribesagroupofdisordersthatfallwithinaspectrumofvariablebut
overlappingclinicalndings.
12. What is oculo-auriculo-vertebral (OAV) spectrum?
OAV,oftenreferredtoasGoldenharsyndrome,isconsideredtobeavariantwithinthespectrum
ofanomalieswithinCFM.
Additionalclinicalndingsinclude:
• Presenceofepibulbardermoids
• Vertebral,especiallycervicalspine,abnormalities
• Higherincidenceoforonasalclefting
• Pharyngealandlaryngealabnormalities
13. How common is CFM?
CFMisestimatedtooccur1in5600births,anditisthesecondmostcommoncongenitalfacial
anomalyaftercleftlipandpalate.Thereisamalepredilectionaswellasright-sidepredominance.It
canoccurinabilateralform;however,theanomalyisunilateralin80%ofcases.
14. What is the most common classification system for CFM?
TheOMENSclassicationassignsanumberfrom0to3totheprimaryareasaffected:Orbital distor-
tion,Mandibularhypoplasia,Earanomaly,Nerveinvolvement,andSofttissuedeciency.A“Plus”
designationmayalsobeincludedtodetailanyextracraniofacialabnormalities.(SeeTable36-2.)
CHAPTER 36 OROMANDIBULARDYSOSTOSIS 373
https://t.me/medicina_free
15. What other classification systems have been developed to describe various as-
pects of the multiple associated malformations?
PruzanskyandKaban,whichareoftenmostusefulinclinicalpractice.Pruzanskypresentedhisclas-
sicationin1969asasimpleandpracticalmeanstodenemandibulardeciencyordeformity.Kaban
modiedtheclassicationbyaddingadditionaldetailandbyseparatingtypeIIdeformityintoIIAand
IIBforms.
16. What is the Kaban classification of the TMJ, and how is it applied?
TheKabanclassicationisusedtocategorizetheanatomyandfunctionofthemandibularramus-
condyleunit,withintheTMJ,aswellastheneedforandtimingofsurgicalreconstruction.Thisclas-
sicationisappliedtoanumberofconditionsthataffectthemandible,temporomandibularjoint,and
facialmusculature,includingTreacherCollinssyndromeandCFM.
• Type I:Allcomponentsofthemandibleandglenoidfossaearepresentandmildlyhypoplastic.The
musclesofmasticationarepresent,andthefunctionoftheTMJisnormal.
• Type IIA:Allcomponentsofthemandibleandglenoidfossaearepresentandmoderatelyhypoplas-
tic.Thecondyleisdisplacedanteriorlyandmedially.Themusclesofmasticationarehypoplastic,
buttheTMJremainsfunctional.
• Type IIB:Thereisseverehypoplasiaofthemandibleandglenoidfossae,butaposteriorpointof
contactstillremainsinananteriorandmedialposition.Themusclesofmasticationareseverely
hypoplasticorpartiallyabsent,andtheTMJisabnormalinfunction.
• Type III:Completeabsenceoftheramus,theglenoidfossa,thejointstructures(disk,capsule,liga-
ments),andmostofthemusclesofmastication.Themandibleisfreeoatingwithoutaposterior
point of contact.
17. What are the general reconstructive stages for patients with Treacher Collins
syndrome and CFM?
Surgicalreconstructionshouldbeconsideredinananatomicsubunitfashionbasedupongrowth,
development,function,andcosmetic/psychosocialconsiderations.
• Orbital-zygomaticreconstructioncanbeundertakenafter5to7yearsofage;lateralcanthopexy is
completedconcurrently.IntypeIIIdeformitiesoftheTMJ,glenoidfossareconstructionshouldbe
carried out at the same time.
• Earlymandibulardistractionmaybeconsideredincasesofairwayobstruction.Otherwisethe
timingofmandibularreconstructionshouldbebaseduponthefunctionoftheTMJ.TypeIIBandIII
deformitiesmaybenetfromdistractionorcostochondralgraftingintheearlymixeddentitionwith
attemptedmanagementofthemaxillarycantbyuseofanasymmetricacrylicsplint.Malocclusion
andfacialasymmetryarebestcompletedwithtraditionalorthognathicsurgicaltechniquesinvolvingthemaxilla,mandible,andchin,atskeletalmaturity.
• Microtiareconstructiongenerallyrequiresmultipleprocedures.Dr.B.BrentandDr.S.Nagatahave
delineatedthetwomostcommonlyemployedsequencesusingautogenoustissue.Treatmentdoes
not usually begin until at least 6 years of age due to costochondral maturity and patient coopera-
tion.Whenindicated,managementofcanalatresiaandthemiddleeararecarriedoutafterexternal
ear reconstruction is completed.
• Softtissueproceduresshouldbecarefullyplannedafterskeletalreconstructioniscomplete,unless
thereisafunctionalindicationnecessitatingearlyintervention.
• Orofacialcleftingistreatedinthetypicalsequence.Liprepairat3to6monthsoflife.Cleftpalate
repairat8to12monthsoflife,unlessairwayconsiderationsdictateotherwise.
• Correctionofthemacrostomiaistypicallyaddressedintherstfewmonthsoflife,andexcisionof
theskintagswithintherstyear.
18. What is Pierre Robin, and what are the pathognomonic clinical findings in Pierre
Robin?
PierreRobinisasequencewithaprimarydefect(arrestedmandibulardevelopment)causinga
cascadeofsecondaryanomalies(glossoptosis,cleftpalate),whichinthissequenceleadstoairway
obstruction.
19. What is the difference between a sequence and a syndrome?
Asequenceoccurswhenasingledevelopmentaldefectresultsinachainofsecondarydefects.A
syndromeisagroupofanomaliesthatcontainmultiplemalformationsand/orsequenceswithvariable
expression.
374 PART V ORALANDMAXILLOFACIALSURGERY
https://t.me/medicina_free
20. What are the most important considerations in the care of neonates with Pierre
Robin sequence (PRS)?
PRSisaclinicalentitythatispostulatedtooccursecondarytorestrictedmandibulargrowth.Itmay
occurinassociationwithacraniofacialsyndromeorbepresentinisolation.Thetonguemaintainsapos-
teriorpositionthatinterfereswiththeembryonicfusionofthepalatalshelves,resultinginacleftpalate.
PRSisvariableinseverityofpresentation.Themostimportantearlyconsiderationsarethe
potentialforairwayobstructionandfeedingdifcultiesbeyondthoseofatypicalchildwithanisolated
cleftpalate.Managementoftheairwayisdependentuponthetypeandlocationofobstructionand
mayrequirepronepositioning,nasopharyngealairway,CPAP,intubation,orsurgery.Surgerymay
includetonguelipadhesion,mandibulardistraction,ortracheostomy.Feedingmaybecomplicatedby
aspirationandreuxandmayrequiretheuseofmedications,acleftpalatefeeder,anasogastrictube,
or a g-tube.
21. What is the most common genetic syndrome associated with PRS?
Sticklersyndrome.
22. Can you describe Stickler syndrome?
Sticklersyndromeisacollagendisorderthatisinheritedinbothautosomaldominantandrecessive
fashions,dependinguponthetype.Therearevesubtypesbaseduponwhichcollagen(II,IX,XI)gene
isinvolved.Inadditiontomicrognathiaandcleftpalate,othercraniofacialndingsmayincludedorsal
nasalandmidfacehypoplasia.Visualabnormalitiesarethemostconcerningasthedevelopmentof
earlyhighmyopiaandretinaldetachmentmayleadtoearlyblindnessifnotidentied.Varyingdegrees
ofsensorineuralhearinglossaswellasothercollagen-basedmusculoskeletalabnormalitiesare
common.
BiBliography
AbubakerO,BensonK:Oral and maxillofacial surgery secrets,ed2,Philadelphia,2007,Elsevier.
AmericanAcademyofPediatricsTaskForceoninfantsleeppositionandsuddeninfantdeathsyndrome.Changing
conceptsofsuddeninfantdeathsyndrome:implicationsforinfantsleepingenvironmentandsleepposition,Pediatrics
105:650–656,2000.
AntunesRB,AlonsoN,PaulaRG:ImportanceofearlydiagnosisofSticklersyndromeinnewborns,J Plast Reconstr Aesthet
Surg65:1029–1034,2012.
CaccameseJF,CostelloBJ,MooneyMP:Noveldeformityofthemandibleinoculo-auriculo-vertebralspectrum:acase
reportandliteraturereview,J Oral Maxillofac Surg64:1278–1283,2006.
CarlsonBM:Human embryology and developmental biology,ed5,Philadelphia,2013,Saunders.
CobbA,GreenB,GillD,etal.:ThesurgicalmanagementofTreacherCollinssyndrome,Brit J Oral Maxillofac Surg
52:581–589,2014.
CostelloBJ,MooneyMP,ShandJ:Craniomaxillofacialsurgeryinthepediatricpatient:growthanddevelopmentconsider-
ations.InFonsecaRJ,MarcianiRD,TurveyTA,editors:Oral and maxillofacial surgery,ed2,StLouis,2009,Saunders.
D’AntonioLL,RiceRD,FinkSC:Evaluationofpharyngealandlaryngealstructureandfunctioninpatientswithoculo-
auriculo-vertebralspectrum,Cleft Palate-Craniofac J35(4):333–341,1998.
EnlowD:Facial growth,ed3,Philadelphia,1990,Saunders.
HennekamRC,BeiseckerLG,etal.:Elementsofmorphology:generaltermsforcongenitalanomalies,Am J Gene A
161(11):2726–2733,2013.
JonesKL:Smith’s recognizable patterns of human malformation,Philadelphia,2006,Elsevier.
KirshnerRE,KayeAE:PierreRobinsequence.InLoseeJ,KirschnerRE,editors:Comprehensive cleft care,NewYork,2009,
McGrawHill.
MossM:Thefunctionalmatrixhypothesisrevisited,Am J Orthodont12(1):8–11,1997.
MullikenJB,KabanLB:Analysisandtreatmentofhemifacialmicrosomiainchildhood,Clin Plast Surg14(1):91–100,1987.
MurrayJE,MullikenJB,KabanLB:Analysisandtreatmentofhemifacialmicrosomia,Plast Reconstr Surg74(2):186–199,1984.
NevilleB,DammD,AllenC,etal.:Oral and maxillofacial pathology,Philadelphia,2002,Saunders.
PosnickJ:Craniofacial and maxillofacial surgery in children and young adults,Philadelphia,2000,Saunders.
PosnickJ,RuizR:TreacherCollinssyndrome:currentevaluation,treatment,andfuturedirections,Cleft Palate-Craniofac J
37(5),2000.
RuizR,etal.:Updateincraniofacialsurgery,Oral Maxillofac Surg Clin16(4):429–605,2004.
SchlumpJ,SteinA,HehrU,etal.:TreacherCollinssyndrome:clinicalimplicationsforthepaediatrician—anewmutation
inaseverelyaffectednewbornandcomparisonwiththreefurtherpatientswiththesamemutation,andreviewofthe
literature,Euro J Pediatr171:1611–1618,2012.
SulikKK:Orofacialembryogenesis:aframeworkforunderstandingcleftingsites.InFonsecaRJ,MarcianiRD,TurveyTA,
editors:Oral and maxillofacial surgery,ed2,StLouis,2009,Saunders.
TrainorPA,AndrewsBT:Facialdysostoses:etiology,pathogenesisandmanagement,Am J Med Gene C163C:283–294,2013.
TraviesoR,ChangC,TernerJ,etal.:ArangeofcondylarhypoplasiaexistsinTreacherCollinssyndrome,J Oral Maxillofac
Surg71:393–397,2013.
CHAPTER 36 OROMANDIBULARDYSOSTOSIS 375
https://t.me/medicina_free
VargervikK:Classicationandmanagementofhemifacialmicrosomia.InPapelID,FrodelJL,HoltGR,etal.:Facial plastic
and reconstructive surgery,ed3,NewYork,2009,Thieme.
VentoAR,LaBrieRA,MullikenJB:TheO.M.E.N.S.classicationofhemifacialmicrosomia,Cleft Palate Craniofac J
28(1):68–77,1991.
WeinzweigJ:Plastic surgery secrets plus,ed2,Philadelphia,2010,MosbyElsevier.
WieczorekD:Humanfacialdysostoses,Clin Gene83:499–510,2013.
SYNDROMES AFFECTING
https://t.me/medicina_free
THE OROFACIAL REGION
Dean M. DeLuke, A. Omar Abubaker, Kenneth J. Benson
CHAPTER 37
1. What is a syndrome?
A syndrome is a set of symptoms that occur together. A particular syndrome may have three, four, or
10 manifestations, but a key sequence of symptoms leads to the diagnosis of a particular syndrome.
2. What is Ellis-van Creveld syndrome?
Ellis-van Creveld syndrome is found mostly in the Amish population and includes dwarfism, hidrotic
ectodermal dysplasia, and fusion of the mid-upper lip. The syndrome is also called chondroectodermal
dysplasia. It is the most common cause of dwarfism among the Amish population.
3. What are the congenital and acquired causes of macroglossia?
Congenital and hereditary conditions causing macroglossia include vascular lesions, such as
lymphangioma and hemangioma, hemihypertrophy, cretinism, Beckwith-Wiedemann syndrome, Down
syndrome, neurofibromatosis, and multiple endocrine neoplasia (MEN) syndrome type 2B. Acquired
causes include long-term edentulous state, amyloidosis, myxedema, acromegaly, angioedema, and
tumors of the tongue.
4. What are the features of achondroplasia?
Achondroplasia is a disease with >80% sporadic genetic incidence representing point mutations.
The average frequency worldwide is 1 in 25,000 though it occurs more frequently in Latin America.
Risk factors for the disease include advanced paternal age at time of conception, and more than 20%
are familial, showing autosomal dominant mode of transmission. Systemic features of this syndrome
include short limbs, short stubby hands, lordotic lumbar spine, prominent buttocks, protuberant
abdomen, and predilection for obesity. The craniomaxillofacial features include macroencephaly
(enlarged head), frontal bossing, depression of nasal bridge, midface hypoplasia with relative
mandibular prognathism, and otitis media. Otitis media in these patients is common during the first
six years of life, which can lead to hearing loss if untreated. Oral features include anterior dental
crowding and Class III malocclusion.
5. What syndromes are associated with mandibular prognathism?
Mandibular prognathism may be present in the following syndromes: basal cell nevus syn-
drome (Gorlin syndrome), Klinefelter syndrome, Marfan syndrome, osteogenesis imperfecta,
and Waardenburg syndrome. Down syndrome has been associated with both prognathism and
micrognathia.
6. What common malformation syndromes are associated with midface deficiency?
The following syndromes may be associated with midface deficiency: achondroplasia, osteogenesis
imperfecta, Apert syndrome, cleidocranial dysplasia, Crouzon syndrome, Marshall syndrome, Pfeiffer
syndrome, and Stickler syndrome.
7. What syndromes are often associated with hyperdontia/hypodontia?
Syndromes Associated
with Hyperdontia
Cleidocranial dysplasia Crouzon
Gardner Down
Hallermann-Streiff Ectodermal dysplasia
Sturge-Weber Ehlers-Danlos
Oral-facial-digital, type I Ellis-van Creveld
376
Syndromes Associated
with Hypodontia
CHAPTER 37 SYNDROMES AFFECTING THE OROFACIAL REGION 377
https://t.me/medicina_free
Syndromes Associated
with Hyperdontia
Fabry-Anderson Goldenhar
8. In what diseases are café au lait spots seen?
Café au lait spots are seen in patients with neurofibromatosis (von Recklinghausen disease) and in
McCune-Albright syndrome. The spots are described as Coast of California (smooth borders) in neurofibromatosis and Coast of Maine (irregular borders) in Albright syndrome.
9. What is von Recklinghausen disease?
Von Recklinghausen disease is more commonly known as neurofibromatosis in current terminol-
ogy. Eight forms are recognized, but 85% to 90% are type I (skin related). The disease is autosomal
dominant, and occurrence is 1 in 3000 with no sex predilection. The majority of cases exhibit café
au lait spots of the skin (melanin pigmentation). The presence of six or more spots that are >1.5 cm
in diameter is pathognomonic for the disease. Axillary freckling is called Crow’s sign and is often
present in this disease. Type I of the disease most frequently involves the skin and oral mucosa.
Café au lait spots have smooth borders (coastline of California). The disease is thought to arise
from Schwann cells, fibroblasts, and perineural cells. Histologically, proliferation of delicate spindle
cells with thin wavy nuclei and myxoid matrix is often seen. There is no curative treatment for the
disease. Radiotherapy is ineffective and can be associated with transformation of the lesions into
sarcomas.
10. What is neurilemoma (schwannoma)?
Neurilemoma is a slow-growing tumor thought to be derived from Schwann cells. It is an uncommon
disease, and 25% to 48% occur in head and neck areas. The tongue is the most common intraoral
location. Histologically, the lesions usually show a characteristic palisaded cell pattern (Antoni type A
tissue) around central eosinophilic areas known as Verocay bodies. Antoni type B tissue shows a more
disorderly arrangement of cells and fibers. The treatment of neurilemoma is surgical excision, and
there is a low rate of recurrence.
11. What is the differential diagnosis of a newborn with a crusty lower lip that wipes
off easily, leaving areas of indentation?
The differential diagnosis of this condition includes Stevens-Johnson syndrome, herpetic gingivosto-
matitis, epidermolysis bullosa, dermatitis herpetiforms, herpes zoster, and toxic epidermal necrolysis
(Lyell’s disease).
12. What are the clinical features of basal cell nevus syndrome?
The syndrome is also known as Gorlin syndrome. It is an autosomal dominant syndrome with very
complex and highly variable abnormalities. It has several orofacial and systemic abnormalities,
including:
• Cutaneous anomalies, including basal cell carcinoma, palmar and plantar pitting
• Dental and osseous anomalies, such as multiple odontogenic keratocysts (OKCs) in 75% of pa-
tients, mandibular prognathism, rib anomalies (bifid ribs), vertebral anomalies such as kyphoscoliosis in 50%, and bradymetacarpalism
• Ophthalmologic and frontal abnormalities, such as ocular hypertelorism (40%), and frontal and
temporoparietal bossing
• Neurologic anomalies in the form of mental retardation, and calcification of falx cerebri
• Sexual abnormalities in the form of ovarian fibromas and medulloblastomas
• Oral manifestations, including OKCs, which are indistinguishable from those not associated with the
syndrome. The treatment of these cysts is similar to that for other OKCs.
Syndromes Associated
with Hypodontia
Gorlin
Hallermann-Streiff
Hurler
Oral-facial-digital, type I
Witkop tooth and nail
Sturge-Weber
Turner
378 PART V ORAL AND MAXILLOFACIAL SURGERY
https://t.me/medicina_free
13. What is Frey syndrome?
Frey syndrome (gustatory sweats) is sweating of the temporal cutaneous region upon eating. It
usually occurs due to surgical damage to the auriculotemporal nerve during temporomandibular
joint (TMJ) or parotid surgery. The damaged nerve regenerates in a misdirected fashion and the
parasympathetic salivary nerve supply carried along the auricular region reconnects along sympathetic pathways that innervate the sweat glands. After salivary, gustatory, or psychic stimulation
of the parasympathetic fibers, sweating occurs. Confirmation of the diagnosis consists of using
Minor’s starch iodine test to detect sweating. The treatment for this condition includes topical
anticholinergic and local atropine injections, botulinum toxin injections, severing of the auriculotemporal nerve, or transplantation/interposition of fascia lata graft under the skin in the involved
area. This syndrome should be differentiated from a similar condition called crocodile tears, which
is a lacrimation that occurs during eating and generally follows Bell’s palsy, herpes zoster, or head
injury.
14. What is Ramsay Hunt syndrome?
Symptoms of Ramsay Hunt syndrome include facial nerve paralysis, otalgia, and vesicular eruption
on the external ear, vertigo, and hearing deficits. It is caused by herpes zoster virus infection of an
ipsilateral geniculate ganglion.
15. What is reactive arthritis (formerly Reiter syndrome)?
This syndrome was classically described as a triad of urethritis, conjunctivitis, and arthritis. It usually
affects young males (male to female ratio is 9:1). Urethritis or external genital lesions may be present.
The joint involvement may include the TMJ, leading to TMJ dysfunction symptoms. The underlying
cause is most often either a gastrointestinal or urogenital infection, so it is important to diagnose and
treat the underlying condition.
16. What is Heerfordt syndrome?
Heerfordt syndrome also is called uveoparotitis or uveoparotid fever. It is associated with acute
sarcoidosis. It is characterized by firm painless enlargement of the parotid gland with uveal inflammation of the tracts of the eyes (conjunctivitis, keratitis) and cranial nerve (CN) involvement (CN VII nerve
paralysis in half the cases).
17. What are the clinical features of Ascher syndrome?
There are three features associated with Ascher syndrome:
• Acquired double lip: seen when lips are tensed, resembling a Cupid’s bow
• Blepharochalasis: drooping of tissue between the eyebrow and edge of upper lid so the tissue
hangs loosely over the lid margin
• Thyroid enlargement, which is not a consistent finding and may not appear until many years after
eyelid involvement
18. What is Melkersson-Rosenthal syndrome?
Recurrent attacks of facial paralysis, noninflammatory painless facial edema, cheilitis granulomatosa,
and fissured tongue. Facial palsy may begin suddenly in childhood and precede facial edema by many
years.
19. What is the most common human chromosomal abnormality?
Down syndrome, also called trisomy 21 syndrome. Clinically, the patient has a flat face, large anterior
fontanel, open sutures, fissured tongue, and hypermobility of the joints. It has been associated with
both prognathism and micrognathia.
20. Which syndrome has been referred to as hysterical dysphagia?
Plummer-Vinson syndrome, which usually occurs in the fourth and fifth decades of life. Most com-
monly seen in women, this syndrome is a manifestation of iron deficiency anemia. Symptoms include
cracks at commissures, lemon-tinted skin color, red and smooth painful tongue, and dysphagia from
esophageal stricture.
21. What is Papillon-LeFèvre syndrome?
This is a syndrome of juvenile periodontitis with associated skin lesions. It is manifest as severe
destruction of alveolar bone involving deciduous and permanent teeth, deep periodontal pockets,
boggy gingiva, and fetid breath. Skin lesions may be present and include keratotic lesions of palmar
and plantar surfaces.
CHAPTER 37 SYNDROMES AFFECTING THE OROFACIAL REGION 379
https://t.me/medicina_free
22. Which syndrome is associated with lower lip pits?
Lower lip pits are a common manifestation of van der Woude syndrome (lip pit–cleft lip syndrome).
Lower lip pits are present in 80% of patients with this syndrome. Patients may also be missing the central and lateral incisors, canines, or bicuspids. In addition, these patients often have a cleft lip, but may or
may not have a cleft palate or cleft uvula. Van der Woude syndrome is an autosomal dominant disorder.
23. What is Horner syndrome?
Horner syndrome is a combination of ptosis of the upper eyelid, myosis of the pupil, and anhidrosis
of the forehead caused by interruption of the cervical sympathetic trunk to the orbit. The ptosis is a
result of interruption of the innervation to the superior tarsal muscle, leading to constant ptosis and
interference with maintenance of normal elevation of the upper lid. This should be distinguished from
the inability to open the eye voluntarily, which usually results from paralysis of the oculomotor nerve,
and from the inability to close the lids tightly, which is a result of facial nerve paralysis. The myosis
is a result of the unopposed action of the parasympathetic nerves on the ciliary muscles, whereas
the anhidrosis is the result of interruption of sympathetic flow to the sweat glands. Isolated Horner
syndrome may be caused by trauma to the neck and by tumors involving the carotid artery, or it may
even be the first sign of lung cancer.
24. What is superior orbital fissure syndrome?
Superior orbital fissure syndrome is a combination of symptoms that result from direct or indirect pres-
sure on the structures passing through the superior orbital fissure. This mostly occurs as a rare complication of orbital fracture, although it can result from neoplastic or inflammatory conditions affecting
the superior orbital fissure. The clinical presentation varies in severity, depending on the number of
structures involved. The complete presentation of the syndrome includes subconjunctival ecchymosis;
proptosis; ptosis; persistent periorbital edema; ophthalmoplegia; loss of corneal, direct, consensual,
and accommodation reflexes; and loss of sensation over the forehead extending to the vertex.
25. What is cherubism?
Cherubism is a syndrome characterized by bilateral, progressive enlargement of the maxilla and
mandible. The onset is often early (between ages two and five). The process may sometimes burn out
after puberty. Radiographically, there is a characteristic multilocular or soap bubble appearance of the
jawbones. Recontouring procedures may be necessary to reduce bulk and improve esthetics, and this
is best done after puberty or when the disease is in a quiescent phase.
26. What are the four distinguishing features found in patients with osteogenesis
imperfecta?
1. Brittle bones that are prone to fracture
2. Blue sclera
3. Dentinogenesis imperfecta
4. Maxillary hypoplasia
27. What are the four distinguishing features found in patients with cleidocranial
dysplasia?
1. Aplasia of clavicles
2. Multiple impacted and supernumerary teeth
3. Short stature
4. Class III skeletal malocclusion
5. High-arched palate
28. What are the four distinguishing features found in patients with Ehlers-Danles
syndrome?
1. Extreme joint hypermobility (including the TMJ)
2. Hyperelastic skin that can be stretched readily
3. Mucosal fragility and early onset of periodontal disease
4. Hypoplastic enamel and dentin
29. What are the four distinguishing features found in patients with Gardner Syndrome?
1. Intestinal polyposis (with a high risk of malignant transformation)
2. Multiple supernumerary and impacted teeth
3. Osteomas of the jawbones
4. Multiple soft tissue tumors (desmoid tumors, epidermoid cysts)
380 PART V ORAL AND MAXILLOFACIAL SURGERY
https://t.me/medicina_free
30. What is Bechet syndrome?
Bechet syndrome is a multisystem immune system disorder that may be triggered by viral or bacterial
infection. It is characterized by the triad of multiple apthous-like ulcers, uveitis, and genital lesions.
In severe cases, treatment with systemic steroids may be indicated.
31. Describe the distinctions between Stevens-Johnson syndrome (SJS) and toxic
epidermal necrolysis (TEN).
SJS is classically described as a severe form of erythema multiforme with mucosal and skin involve-
ment, along with genital and eye lesions. In TEN, the skin involvement is more progressive and severe,
involving skin detachment on more than 30% of skin surfaces. In the majority of cases, a toxic drug
reaction is the cause, and a T-cell mediated response is the underlying mechanism.
32. What is Peutz-Jeghers syndrome?
Peutz-Jeghers syndrome is characterized by intestinal polyps that often become malignant, and
mucocutaneous pigmentation (oral melanosis) that involves intraoral and perioral regions.
33. What are the multiple endocrine neoplasia (MEN) syndromes?
MEN encompasses a constellation of syndromes: MEN type 1, type 2A, and type 2B. Common to all are
endocrine neoplasias (adrenal, thyroid, pituitary, parathyroid, and pancreas). MEN 2B has associated
mucosal neuromas and mandibular prognathism, and patients typically exhibit a marfanoid appearance.
The endocrine tumors in type 2B are medullary thyroid carcinoma and pheochromocytoma.
34. What is the classic triad of symptoms associated with Trotter syndrome, and what
is the cause of this syndrome?
The classic triad of symptoms in Trotter syndrome is hearing loss, soft palate paralysis or devia-
tion, and neuralgia or paresthesia of the third division of the trigeminal nerve (lingual or mandibular
branches). Trismus is also a common clinical correlate. The symptoms are all caused by the occurrence and direct extension of a nasopharyngeal carcinoma. The condition is often confused with or
misdiagnosed as a temporomandibular disorder.
35. What is Osler-Rendu-Weber syndrome, and what is its significance for the oral
and maxillofacial surgeon?
Osler-Rendu-Weber syndrome is also known as hereditary hemorrhagic telangiectasia, and it is
characterized by multiple arteriovenous malformations. Spontaneous bleeding may occur, and often
the presence of multiple areas of telangiectasia on the lips, oral mucosa, and/or perioral lesions may
lead to the initial diagnosis.
36. Give at least three distinguishing features of Papillon-Lefèvre syndrome.
1. Early periodontal disease that affects both the primary and permanent dentition
2. Palmar and plantar keratosis
3. Calcification of the falx cerebri is a frequent finding.
37. Give at least three distinguishing features of Prader-Willi syndrome.
1. Short stature
2. Morbid obesity (with an early age of onset) secondary to hypothalamic dysfunction
3. Small mouth, hands, and feet with dolichocephaly
4. Tendency to develop diabetes and sleep apnea
38. Give at least three distinguishing features of Sjogren syndrome.
1. Originally described as a triad of dry eyes, dry mouth, and autoimmune disease
2. Bilateral salivary gland enlargement is a common finding.
3. Histologically, the diagnosis can be confirmed by biopsy of minor salivary glands in the lip or palate
(classic finding is periductal lymphocytic infiltrate).
4. A predilection to develop lymphoma
39. What is the most commonly observed inheritance pattern for syndromes of the
Autosomal dominant.
In current terminology, it is also important to distinguish between primary and secondary Sjogren
syndrome. Primary Sjogren syndrome refers to involvement of the salivary and lacrimal glands, without
evidence of systemic autoimmune disease, while secondary Sjogren syndrome is associated with an
autoimmune disease (most often rheumatoid arthritis or systemic lupus erythematosus).
head and neck?
CHAPTER 37 SYNDROMES AFFECTING THE OROFACIAL REGION 381
https://t.me/medicina_free
BiBliography
Cohen M: Anomalies, syndromes and medical genetics. In Oral and maxillofacial surgery update, vol 2, Rosemont, IL, 1998,
AAOMS Publications.
DeLuke DM: Syndromes of the head and neck, an atlas of the oral and maxillofacial clinics of North America, Philadelphia,
2014, Elsevier.
Goodrich JJ, Hall CD: Craniofacial anomalies: growth and development from a surgical perspective, New York, 1995,
Thieme Medical.
Hennekam R, Allanson I, Krantz I: Gorlin’s syndromes of the head and neck, ed 5, New York, 2010, Oxford Press.
Jones KL, Jones MC, del Campo M: Smith’s recognizable patterns of human malformation, ed 7, Philadelphia, 2013,
Saunders.
Neville B, Damm D, Allen C, et al.: Oral and maxillofacial pathology, ed 3, Philadelphia, 2008, Saunders.
Salmon AM: Developmental defects and syndromes, Aylesbury, England, 1978, HM+M Publications.
Соседние файлы в папке @xirurgi_2025