Syndromes Of The Head & Neck

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Syndrome: A group of malformations, deformations and malformation sequences, etc. that occur together due to some identifiable underlying cause

Percent

Known genetic transmission

20

Chromosomal aberration

3-5

Environmental causes Radiations Therapeutic Nuclear

1

Infections Rubella virus

Herpes virus hominis Toxoplasma Syphilis

2-3

Maternal metabolic imbalance Diabetae Phenylketonuria Virilizing tumors Endemic cretinism

2

Drugs, vitamins, and chemicals Androgenic hormone Steroid hormones Folic acid antagonists Chemotherapy drugs Thalidomide Anticoagulants Anticonvulsants Tranquilizers Fat-soluble vitamins (?) Inhalant anesthetics Organic mercury

3-4

Unknown 65

Classification ofCraniofacial Deformities

CleftsSynostosisAtrophy/hypoplasiaNeoplasia/hyperplasiaUnclassified

American Cleft Palate Association 1981

Craniofacial CleftsFailure of fusion of facial process

Cleft lip—failure of fusion of median nasal process and maxillary process.

Syndromes associated with cleft lip and palate

Pieere RobinTreacher CollinsNager’s Acrofacial DysosotosisGoldenhar,’s SyndromeMobius SyndromeHallerman Streiff Syndrome

Pierre Robin SyndromeMicrognathiaGlossoptosis( under develoment of jaw-little support of tongue musculature-downward & backward fall of tongue)

Cleft palate

EtiologyUnclear etiologypoor development of the jaw at

about the 6th to the 11th week of fetal life

Other Clinical featuresFacies-Andy Gump chin, bird facies

CVS-congenital murmurs, patent PDA

Eyes & Ears-cataract, esotropia, glaucoma, microopthalmia, deformed pinna , deafness

CNS-mild to moderate mental retardation

Pierre Robin SequenceAirway management in newborn-medical emergencyTracheostomyDistraction osteogenesis

Cleft palate repairSubsequent orthodontic treatment and orthognathic surgery

Pierre Robin Malformation Sequence (PRMS): Associated Syndromes

Stickler syndrome: PRMS, high myopia with vitreo- retinal degeneration, flat midface, mild epiphyseal dysplasia; autosomal dominant inheritance

• Velo-cardio-facial syndrome (aka di George): PRMS, characteristic facial appearance, conotruncal cardiac defects, etc.; due to deletion 22q11.2.

•

Treacher-Collins syndrome

Franceschetti and Klein, who extensive reviewed the essential components of the condition, used the term mandibulofacial dysostosis to describe the clinical features.

Treacher Collins-Franceschetti syndrome 1 (TCOF1) was the other named of the syndrome.

TCOF1 gene found on chromosome 5q (TREACLE gene)

The anomalies was due to the defects of the first

and second branchial arches, clefts, and

pouches during early embryonic development :

1. Abnormalities of the pinnae which are frequently

associated with atresia of the external auditory

canals and anomalies of the middle ear ossicles.

Bil. Conductive hearing loss is common.

2. Hypoplasia of the facial bones, especially mandible and zygomatic complex.

3. Antimongoloid slanting of the palpebral fissures with colobomata of the lower eyelids and a paucity of lid lashes medial to the defect.

4. Cleft palate .

TreatmentInfancy

AirwaySwallowing, FeedingHearingVisionCleft palate managementMacrostomia repair

>7yrOrbito-Zygomatic regionOn-lay bone graft

Ancillary Procedures

Soft tissue augmentationCorrective bone surgery

CraniosynostosisCraniosynostosis is defined as the

premature fusion of the cranial sutures100 BC, Hippocrates: Abnormal head

shape with cranial suture involvement1851, Virchow: Craniosynostosis1999, Alden: compensatory growth to

one side of suture

Incidence: 1/2000Syndormic or IsolatedHereditary: isolated: 2%, syndromic

50%

CraniosynostosisPrimary craniosynostosis: a primary defect of ossification

Secondary craniosynostosis: a failure of brain growth, more commonly

Syndromic craniosynostosis: display other body deformities

Scaphocephaly - Early fusion of the sagittal

suture

Ant. plagiocephaly - Early fusion of 1 coronal suturePost. plagiocephaly - Early closure of 1 lambdoid

suture

Brachycephaly - Early bilateral coronal suture fusion

Trigonocephaly - Early fusion of the metopic

suture

Crouzon SyndromeAutosomal dominant, 50% due to spontaneous

mutations, complete penetrance, variable expresivity

Due to mutation of FGFR-2 (Fibroblast Growth Factor Receptor) gene (10q26)

No Syndactyly or cervical fusion

Usually normal intelligence

Crouzon Syndrome

Midface (maxillary) hypoplasia Exophthalmos secondary to shallow orbits

Ocular hypertelorism Nose: Beaked appearance

Mouth: Mandibular prognathism Narrow, high, or cleft palate and bifid uvula

Apert (acrocephalosyndactyly)

• Autosomal dominant, most cases due to spontaneous mutation

Due to a mutation of FGFR-2 (Fibroblast Growth Factor Receptor) gene (10q26)

Clinical FeaturesBrachycephalyFlat faceHypertelorism, strabismus, ocular muscle

palsiesModerate to severe exorbitism, short

zygomatic archNarrow palate +/- cleftBony syndactyly of bilateral hands

Fusion of four fingersSpared thumb with broad distal phalanx

Cutaneous or bony syndactyly of toes

Apert (acrocephalosyndactyly)

additional feature of syndactyly.

Apert SyndromeExtremities and digits Syndactyly involves

the hands and feet with partial-to-complete fusion of the digits

Upper limbs are affected more severely

Central nervous systemIntelligence varies

from normal to mental deficiency

Papilledema and optic atrophy with loss of vision

Apert SyndromeSkin

Hyperhidrosis (common)

Cardiovascular (10%)ASD, PDA, VSD, PS, Overriding aorta, CoA, Dextrocardia, TOF,

Endocardial fibroelastosis

Genitourinary (9.6%)Polycystic kidneys, Duplication of renal pelvis, etc..

Gastrointestinal (1.5%)Pyloric stenosis, Esophageal atresia and tracheoesophageal

fistula, etc..

Respiratory (1.5%)Anomalous tracheal cartilage, Tracheoesophageal fistula,

Pulmonary aplasia, Absent right middle lobe of lung, Absent interlobular lung fissures

Pfeiffer Syndrome Skull is prematurely

fused and unable to grow normally

Bulging wide-set eyes due to shallow eye sockets (occular proptosis)

Underdevelopment of the midface

Broad, short thumbs and big toes

Possible webbing of the hands and feet

Saethre-Chotzen Syndrome

autosomal dominant inheritance patternCraniosynostosis low-set frontal hairline ptosis of the upper eyelids facial asymmetry brachydactyly,partial cutaneous syndactylymild syndactyly involving only soft tissue of

index and middie fingerscryptorchidism; renal anomalie

Carpenter's Syndrome Head and neck: Craniosynostosis first involving the

sagittal and lambdoid sutures later extending to the coronal sutures. Cloverleaf skull may occur

Ears: Low set ears and preauricular fistulae.

Eyes: Hypertelorism, mildly downward slanting of the palpebral fissures, epicanthic folds, microcornea, corneal opacity, and optic atrophy

Nose: Flat nasal bridge.

Obesity

Mouth and oral structures: A narrow or highly arched palate.

Hand and foot: The fingers are short and stubby with agenesis of the middle phalanges and soft tissue syndactyly, especially of the third and fourth fingers.

Cardiovascular system: About one third of all cases

Growth and development: Growth retardation is a constant feature. Mental retardation is common but not constant.

Cloverleaf Skull Syndrome

Kleeblattschädel (ie, cloverleaf skull) results from fusion of all sutures except the metopic and squamosal sutures, giving the head a cloverleaf appearance

Cloverleaf Skull Syndrome

Cloverleaf skull or kleeblattschadel is a rare malformation caused by synostosis of multiple cranial sutures.

It can be associated with hydrocephalus, proptosis, and hypoplasia of the midface and cranial base

Clover leaf skull

Head: Cloverleaf skullFrontal bone bossing

Anterior fontanel: 7.5 x 4.5cm

Mid-face hypoplasia

Eyes: not injectedEar: suspect ear canal

obstructionNose: suspect left canal

ObstructionMouth: no cleft palate

Frontal area bossingPseudo low set ears

Exophthalmos

Brain CT

1. Premature closure of multiple cranial sutures causing trilobed appearance of skull on coronal images and brachicephaly is seen, cloverleaf skull syndrome is considered. Beaten copper appearance of the skull is also noted. 2. Enlargement of the fontanelles is noted.

Cloverleaf Skull Syndrome

Many syndrome present with cloverleaf skull including most of the acrocephalopolysyndactylies (Crouzon, Pfeiffer, Carpenter, Apert…)

It is also typical of the type II form of thanatophoric dysplasia (another FGFR mutation).

Indications of SurgeryIntracranial hypertension

Multiple suture: 42%Single suture 13%

Myriad neuropsychiatric disordersBehaviour disturbanceMental retardationPsycho-social considerations

The major goals of treatment include

1. Preventing brain compression, optic nerve compression/cornea injury, and psychosocial problems.

2. Promoting normal development of craniofacial structures such as brain, skull, facial bones, and muscle.

3. Decreasing craniofacial malformities by establishing nearly normal appearance including facial symmetry, facial proportion, and facial balance.

4. Improving breathing via increased nasopharyngeal and oropharyngeal airway space.

5. Decreasing morbidity and mortality.

Timing of treatment

The timing of reconstruction is divided into three major steps that are referred to as ‘‘staged reconstruction.’’

1. Primary cranioorbital decompression-cranial vault reshaping in infancy; supraorbital rim advancement (ORA), anterior cranial vault reconstruction (ACVR), and posterior cranial vault reconstruction at 6 to 12 months up to 2 years.

2. Management of midface deformity in childhood (5–7 years).

3. Management of the jaw deformity and malocclusion in adolescence (13–18 years).

Five levels of Tessier’s craniofacial framework.

Level A, cranial vault.Level B, orbitofrontal unit. Level C, lower orbit with body of mixilla and zygomas. Level D, upper jaw.Level E, mandible.

Tessier’s topographic and anatomic classification of craniofacial synostosis

Tessier’s classification Levels of malformationClass 1: isolated cranial vault dysmorphism

level AClass 2: syndromic orbitocranial dysmorphism

level BClass 3: asymmetric orbitocranial

dysmorphism levels B and CClass 4: Saethre-Chotzen group levels A–CClass 5: Crouzon group levels A–DClass 6: Apert group levels A–E

Surgical treatments related to level of malformation Surgical malformation

Level of Malformations primary craniotomies

A 1. anterior cranial vault reconstruction

2. posterior cranial vault reconstruction

3. strip craniotomy

orbitofrontal unit reconstruction1. rotation for correction of frontonasal angle

B 2. anteroposterior correction3. transverse correction: widening or narrowing

midface hypoplasia and normal upper face 1. extracranial LeFort III osteotomy/distraction

C2. LeFort II osteotomy/distraction3. augmentationmidface hypoplasia and abnormal upper face1. monobloc procedure2. one-stage procedure: ACVR/ORA and LeFort III osteotomy3. two-stage procedure: ACVR/ORA and LeFort III osteotomyhypertelorism1. bifacial partition procedure2. intracranial four-wall osteotomy

maxillary procedures [2,3] D

mandibular procedures [2,3] E

An 18-month-old girl with brachycephaly and midface deficiency with a mild degree of papilledema . She was found to have bilateral coronal synostosis and midface hypoplasia without extremity anomalies. Diagnosis - Crouzon syndrome

Profile view at 3 years of age, 1.5 years after undergoing first-stage cranio-orbital decompression and reshaping.

Three-dimensional CT scan views of craniofacial skeleton, just1 week after cranio-orbital reshaping with advancement

Craniofacial MicrosomiaPruzansky reported a grading system of

progressive mandibular deficiency: grade I, minimal hypoplasia of the mandible grade II, functioning but deformed

temporomandibular joint with anteriorly and medially displaced condyle

grade III, absence of the ramus and glenoid fossa.

`A New Classification Based on the Kaban’s Modification for Surgical Management of Craniofacial Microsomia

Jose Rolando Prada Madrid, M.D.,1 Giovanni Montealegre, M.D, and Viviana Gomez, M.D.

Craniomaxillofac Trauma Reconstruction 2010;3:17.

New Classification

Type I Hypoplastic temporomandibular joint

Type IIa hypoplastic and abnormal shape of mandibular ramus, condyle, and temporomandibular joint

Type IIb mandibular ramus is hypoplastic and markedly abnormal in form and location, being medial and anterior

Type III Absence of the mandibular ramus

Type IV Mandibular body hypoplasia

Management Protocol Based on New Classification

Type I Type IIa Type Iib Type III Type IVOrthopedicmanagement

DistractionOsteogenesisorthopedicmanagement

DistractionOsteogenesisorthopedicManagement

Iliac or costochondral bonegraftdistractionosteogenesis (later)

Fibular-free flapdistractionosteogenesis(later if needed)

Goldenhar Syndrome

Oculo-Auriculo-Vertebral Dysplasia

Bilateral involved Sporadic with weak genetic component

Prominent frontal bossingLow hairlineMandibular hypoplasiaLow-set earsColobomas of upper eyelidsEpibulbar dermoidsAccessory auricular appendages, bilateral

and anteriorlyVertebral anomalies

Goldenhar Syndrome (Oculoauriculovertebral spectrum)

This 5-year-old boy has facial asymmetry and right microtia.

Binders SyndromeMaxilloNasal dysplaisaVon Binder 1962

short nose with flat bridgeabsent anterior nasal spinelimited nasal mucosashort columellaacute nasal labial angleperialar flatnesscouvex upper liptendency to class II oclusion

TreatmentCorrection of HypotelorismLeFort I or LeFort II advancementInferior orbital rim / miface

augmentationAugmentation rhinoplasty

SYNDROMES ASSOCIATED WITH CRANIAL NERVES

Sturge-Weber Syndrome(Encephelotrigeminal

angiomatosis)

Present at birth with seizure and large port-wine birthmark on side of face

Capillary malformation of the ophthalmic division of the trigeminal nerve.

Associated with vascular malformations of the leptomeninges, leads to ischemic atrophy and cortical calcification

Clinically causes seizures, focal neurologic deficits, developmental delay

Management

• Pulsed dye laser for treatment of stain• Seizures managed with anticonvulsants,

difficult• Glaucoma responsive to medical therapy

only50% of time, surgery or laser used

Moebius Syndrome (Congenital Facial Diplegia)

Expressionless Faceabsence or underdevelopment of the 6th and

7th cranial nervesFirst symptom, present at birth, is an inability to

suck. Other symptoms can include: feeding,

swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression;; eye sensitivity; motor delays; high or cleft palate; hearing problems; and speech difficulties.

Melkersson Rosenthal SyndromeRecurrent attacks of facial paralysisNoninflammatory painless facial

edemaCheilitis granulomatotisFissured Tongue

Chromosomal Abnormalities

Caused by too much or too little chromosomal material

Down syndrome (trisomy 21)Turner syndrome (45,X)Williams syndrome (del 7q11.23)

Down Syndrome

Craniofacial Features:BrachycephalyFlat occiputAbnormal small earsUpslanting palpebral fissuresEpicanthic foldsShort small noseMidface hypoplasiaLarge fissured lipsLarge fissured tongueDental abnormalitiesShort neckAtlantoaxial subluxation & instability

Marfan’s Syyndrome Tall, long arms/fingers/toes –Arachanodactlyly Eye dislocation/or cataracts scoliosis aorta- weak and stretched Sleeping/breathing problems Stretch marks High arched palate Micrognathia

Marfan Syndrome

                                                         

                                                     

Person w/ Marfan Syndrome

Mutated fibrillin protein from Marfan Syndrome

Enlarged aorta

Cleidocranial Dysostosis-Marie Sainton’s Disease

•In the absence of clavicles, the patient can bring the shoulders forward towards the midline.•underdevelopedmaxilla.

Postero-anterior skull radiograph shows delayed closure of sutures and

fontanelles, presence of multiple wormian bones. Multiple supernumerary teeth

Ellis-van Creveld Syndrome (EVCS):Clinical FeaturesSkeletal dysplasia with short extremities

& stature Axial polydactylyEctodermal dysplasia with nail

hypoplasia and oral anomaliesCongenital heart defects in 60% (single

atrium) AKA chondroectodermal dysplasia

Ellis-van Creveld Syndrome (EVCS) Oral and Dental

Features

Neonatal teeth Partial anodontia Small teethDelayed eruptionThickened oral frenula, with upper lip bound to alveolar ridge

Summary

Dysmorphology is the field of clinical genetics that deals with syndromology.

Syndromes can be caused by chromosomes anomalies, single genes mutations, teratogens, or other causes.

Because many genetic syndromes have oral manifestations, the maxillofacial surgeonmust have a good working knowledge of dysmorphology.

multidisciplinary team in managing these patients.

Thank you