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Syndromes of Head & Neck


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syndromes of head & neck

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Syndromes of Head & Neck

  1. 1. Syndromes Of The Head & Neck
  2. 2. ` Syndrome: A group of malformations, deformations and malformation sequences, etc. that occur together due to some identifiable underlying cause
  3. 3. 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
  4. 4. 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
  5. 5. Classification of Craniofacial Deformities  Clefts  Synostosis  Atrophy/hypoplasia  Neoplasia/hyperplasia  Unclassified  American Cleft Palate Association 1981
  6. 6. Craniofacial Clefts  Failure of fusion of facial process  Cleft lip—failure of fusion of median nasal process and maxillary process.
  7. 7. Syndromes associated with cleft lip and palate  Pieere Robin  Treacher Collins  Nager’s Acrofacial Dysosotosis  Goldenhar,’s Syndrome  Mobius Syndrome  Hallerman Streiff Syndrome
  8. 8. Pierre Robin Syndrome Micrognathia Glossoptosis( under develoment of jaw-little support of tongue musculature-downward & backward fall of tongue) Cleft palate
  9. 9. Etiology  Unclear etiology  poor development of the jaw at about the 6th to the 11th week of fetal life
  10. 10. Other Clinical features Facies-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
  11. 11. Pierre Robin Sequence Airway management in newborn-medical emergency Tracheostomy Distraction osteogenesis Cleft palate repair Subsequent orthodontic treatment and orthognathic surgery
  12. 12. 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.
  13. 13. 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)
  14. 14. 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.
  15. 15. 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 .
  16. 16. Treatment Infancy Airway Swallowing, Feeding Hearing Vision Cleft palate management Macrostomia repair
  17. 17. >7yr Orbito-Zygomatic region On-lay bone graft
  18. 18. Ancillary Procedures Soft tissue augmentation Corrective bone surgery
  19. 19. Craniosynostosis  Craniosynostosis is defined as the premature fusion of the cranial sutures  100 BC, Hippocrates: Abnormal head shape with cranial suture involvement  1851, Virchow: Craniosynostosis  1999, Alden: compensatory growth to one side of suture
  20. 20.  Incidence: 1/2000  Syndormic or Isolated  Hereditary: isolated: 2%, syndromic 50%
  21. 21. Craniosynostosis  Primary craniosynostosis: a primary defect of ossification  Secondary craniosynostosis: a failure of brain growth, more commonly  Syndromic craniosynostosis: display other body deformities
  22. 22. Scaphocephaly - Early fusion of the sagittal suture
  23. 23. Ant. plagiocephaly - Early fusion of 1 coronal suture Post. plagiocephaly - Early closure of 1 lambdoid suture
  24. 24. Brachycephaly - Early bilateral coronal suture fusion
  25. 25. Trigonocephaly - Early fusion of the metopic suture
  26. 26. Crouzon Syndrome  Autosomal 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
  27. 27. 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
  28. 28. Apert (acrocephalosyndactyly) • Autosomal dominant, most cases due to spontaneous mutation  Due to a mutation of FGFR-2 (Fibroblast Growth Factor Receptor) gene (10q26)
  29. 29. Clinical Features  Brachycephaly  Flat face  Hypertelorism, strabismus, ocular muscle palsies  Moderate to severe exorbitism, short zygomatic arch  Narrow palate +/- cleft  Bony syndactyly of bilateral hands  Fusion of four fingers  Spared thumb with broad distal phalanx  Cutaneous or bony syndactyly of toes
  30. 30. Apert (acrocephalosyndactyly) additional feature of syndactyly.
  31. 31. Apert Syndrome  Extremities and digits Syndactyly involves the hands and feet with partial-to- complete fusion of the digits Upper limbs are affected more severely  Central nervous system  Intelligence varies from normal to mental deficiency  Papilledema and optic
  32. 32. Apert Syndrome  Skin  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
  33. 33. 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
  34. 34. Saethre-Chotzen Syndrome  autosomal dominant inheritance pattern  Craniosynostosis  low-set frontal hairline  ptosis of the upper eyelids  facial asymmetry  brachydactyly,  partial cutaneous syndactyly  mild syndactyly involving only soft tissue of index and middie fingers  cryptorchidism; renal anomalie
  35. 35. 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.
  36. 36. 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
  37. 37. 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
  38. 38. Clover leaf skull Head: Cloverleaf skull Frontal bone bossing Anterior fontanel: 7.5 x 4.5cm Mid-face hypoplasia Eyes: not injected Ear: suspect ear canal obstruction Nose: suspect left canal Obstruction Mouth: no cleft palate
  39. 39. Frontal area bossing Pseudo low set ears Exophthalmos
  40. 40. 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.
  41. 41. 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).
  42. 42. Indications of Surgery  Intracranial hypertension  Multiple suture: 42%  Single suture 13%  Myriad neuropsychiatric disorders  Behaviour disturbance  Mental retardation  Psycho-social considerations
  43. 43. 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.
  44. 44. 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).
  45. 45. 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.
  46. 46. classification of craniofacial synostosis  Tessier’s classification Levels of malformation  Class 1: isolated cranial vault dysmorphism level A  Class 2: syndromic orbitocranial dysmorphism level B  Class 3: asymmetric orbitocranial dysmorphism levels B and C  Class 4: Saethre-Chotzen group levels A–C  Class 5: Crouzon group levels A–D  Class 6: Apert group levels A–E
  47. 47. 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 reconstruction 1. rotation for correction of frontonasal angle B 2. anteroposterior correction 3. transverse correction: widening or narrowing
  48. 48. midface hypoplasia and normal upper face  1. extracranial LeFort III osteotomy/distraction C  2. LeFort II osteotomy/distraction  3. augmentation  midface hypoplasia and abnormal upper face  1. monobloc procedure  2. one-stage procedure: ACVR/ORA and LeFort III osteotomy  3. two-stage procedure: ACVR/ORA and LeFort III osteotomy  hypertelorism  1. bifacial partition procedure  2. intracranial four-wall osteotomy  maxillary procedures [2,3] D  mandibular procedures [2,3] E
  49. 49. 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
  50. 50. Profile view at 3 years of age, 1.5 years after undergoing first-stage cranio-orbital decompression and reshaping.
  51. 51. Three-dimensional CT scan views of craniofacial skeleton, just1 week after cranio-orbital reshaping with advancement
  52. 52. Craniofacial Microsomia  Pruzansky 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.
  53. 53. 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.
  54. 54. 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
  55. 55. Management Protocol Based on New Classification Type I Type IIa Type Iib Type III Type IV Orthopedic management Distraction Osteogenesi s orthopedic management Distraction Osteogenesi s orthopedic Managemen t Iliac or costochondr al bone graft distraction osteogenesis (later) Fibular-free flap distraction osteogenesis (later if needed)
  56. 56. Goldenhar Syndrome Oculo-Auriculo-Vertebral Dysplasia Bilateral involved Sporadic with weak genetic component
  57. 57.  Prominent frontal bossing  Low hairline  Mandibular hypoplasia  Low-set ears  Colobomas of upper eyelids  Epibulbar dermoids  Accessory auricular appendages, bilateral and anteriorly  Vertebral anomalies
  58. 58. Goldenhar Syndrome (Oculoauriculovertebral spectrum) This 5-year-old boy has facial asymmetry and right microtia.
  59. 59. Binders Syndrome  MaxilloNasal dysplaisa  Von Binder 1962  short nose with flat bridge  absent anterior nasal spine  limited nasal mucosa  short columella  acute nasal labial angle  perialar flatness  couvex upper lip  tendency to class II oclusion
  60. 60. Treatment  Correction of Hypotelorism  LeFort I or LeFort II advancement  Inferior orbital rim / miface augmentation  Augmentation rhinoplasty
  62. 62. 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
  63. 63. Management  • Pulsed dye laser for treatment of stain  • Seizures managed with anticonvulsants, difficult  • Glaucoma responsive to medical therapy only  50% of time, surgery or laser used
  64. 64. Moebius Syndrome (Congenital Facial Diplegia)  Expressionless Face  absence or underdevelopment of the 6th and 7th cranial nerves  First 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.
  65. 65. Melkersson Rosenthal Syndrome  Recurrent attacks of facial paralysis  Noninflammatory painless facial edema  Cheilitis granulomatotis  Fissured Tongue
  66. 66. Chromosomal Abnormalities  Caused by too much or too little chromosomal material  Down syndrome (trisomy 21)  Turner syndrome (45,X)  Williams syndrome (del 7q11.23)
  67. 67. Down Syndrome  Craniofacial Features:  Brachycephaly  Flat occiput  Abnormal small ears  Upslanting palpebral fissures  Epicanthic folds  Short small nose  Midface hypoplasia  Large fissured lips  Large fissured tongue  Dental abnormalities  Short neck  Atlantoaxial subluxation & instability
  68. 68. 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
  69. 69. Marfan Syndrome Person w/ Marfan Syndrome Mutated fibrillin protein from Marfan Syndrome Enlarge d aorta
  70. 70. Cleidocranial Dysostosis-Marie Sainton’s Disease •In the absence of clavicles, the patient can bring the shoulders forward towards the midline. •underdeveloped maxilla.
  71. 71.  Postero-anterior skull radiograph shows delayed closure of sutures and fontanelles,  presence of multiple wormian bones.  Multiple supernumerary teeth
  72. 72. Ellis-van Creveld Syndrome (EVCS): Clinical Features  Skeletal dysplasia with short extremities & stature  Axial polydactyly  Ectodermal dysplasia with nail hypoplasia and oral anomalies  Congenital heart defects in 60% (single atrium)  AKA chondroectodermal dysplasia
  73. 73. Ellis-van Creveld Syndrome (EVCS) Oral and Dental Features  Neonatal teeth  Partial anodontia Small teeth  Delayed eruption  Thickened oral frenula, with upper lip bound to alveolar ridge
  74. 74. 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.
  75. 75. Thank you