Craniofacial anomalies /certified fixed orthodontic courses by Indian dental academy


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Craniofacial anomalies /certified fixed orthodontic courses by Indian dental academy

  2. 2. INDIAN DENTAL ACADEMY Leader in continuing dental education
  3. 3.  A normal birth is always regarded as a logical ,natural event. But when for any reason a deviation occur, the result is very often looked upon with a sense of fear and horror. This is specially true when anomaly or deformity is manifested in the craniofacial region easily the most visible part of the human body.
  4. 4.  The term craniofacial anomalies literally encompasses all congenital deformities of the cranium and face.more specifically however the term has come to imply congenital deformities of the head that interfere with the physical and mental well being (Marsh and Vannier 1985 )
  5. 5. Cellular and Molecular Determinants of Craniofacial Development  The main problem in craniofacial developmental biology is understanding when, where and how are genes expressed and how is differential gene regulation associated with specific pattern of morphogenesis
  6. 6.   During development small “differences” appear from subtle alterations in the chemo-mechanical interactions b/w the nucleus, cytoplasm and the plasma membrane within each cell , as well as the ionic and the metabolic cooperativity b/w individual cells these differences become enhanced as the increasing cell division and positional changes result in more complex patterns of morphogenesis.
  7. 7.   Thereafter these individual differences become associated as regional aggregates of cells Determinants for differences allegedly are localized either  Within the fertilized egg  Progressively partitioned as cytoplasmic determinants  Represented as small molecular signals with in or b/w individual cells that mediate differential gene regulation during development
  8. 8. Hox homeo box network  patterning of much of the craniofacial region is laid down by a cluster of genes, the Hox homeo box network.These are expressed through patterning of rhombomeres
  9. 9.   The structures of the craniofacies are largely derived from neural crest cells. They undergo extensive migrations and interactions ; in the facial region they give rise to almost all the skeletal and connective tissues Interaction of crest cells with other cells, with matrix and growth factors at various locations along the migratory path, or at their destination determine the differentiation of the cells.
  10. 10.  Failure of neural crest to migrate, inadequate migration, failure to proliferate during migration, and premature cell death (necrosis) serve as a basis for the many syndromes, collectively known as neurocristopathies
  11. 11. ETIOLOGY         Chromosomal disorders Single gene disorders Multifactorial inheritance Maternal infections in pregnancy Maternal metabolic derangements Maternal use of medication Radiation exposure Disturbances of embryonic differentiation and fetal growth
  12. 12. Chromosomal disorders   About 50% of fertilizations lead to a spontaneous abortion, largely because of a chromosomal imbalance in the sperm or egg. The incidence of chromosomal disorders at birth is 0.5% and most of these are numerical aberrations caused by non-disjunction at gametogenesis in either parent.     Eg: Trisomy 21 (Down's syndrome); trisomy 13 ; trisomy 18 ; Turner's syndrome (45, XO) Klinefelter's syndrome (47,XXY) ; XYY syndrome
  13. 13. Single-gene disorders    Since every chromosome contains several hundreds of thousands of genes, a mutation of a single gene may cause a variety of abnormalities. Incidence - About 1% Types - Autosomal dominant inheritance Autosomal recessive inheritance X-linked recessive inheritance X-linked dominant inheritance
  14. 14. Autosomal dominant inheritance The presence of a mutant gene in a patient causes symptoms irrespective of the presence of a normal gene at the same gene locus.  Disorders are clinically manifested in heterozygotes.  Homozygotes usually have a very severe expression as compared to the heterozygous form, e.g. homozygous (lethal) achondroplasia.
  15. 15.   PENETRANCE - percentage of gene carriers who are identifiable as such by showing symptoms. NON-PENETRANCE -percentage of individuals carrying a gene without showing any detectable symptoms.
  16. 16.  variation of expression in the number and/or degree of symptoms in a carrier of the gene frequently occurs and the cause could be the unpredictability of the interaction between the normal gene and the mutant gene.  Age-dependent variation in expressionPolycystic kidney disease  Huntington's chorea   independent of age –  achondroplasia
  17. 17. Autosomal recessive inheritance  parents of the affected patient are healthy, but heterozygous (carriers) for a normal gene A and a mutant gene a. Everyone of their children, irrespective of its sex, has a risk of 1 in 4 of being affected (homozygous aa, for the mutant gene).
  18. 18. X-linked inheritance  Most genes on the x chromosome are inactivated shortly after conception at the time of implantation of the female embryo. This inactivation is irreversible for the cell and its descendants.
  19. 19. X-linked recessive inheritance generally heterozygous female does not show expression of the trait; however, partial expression in some syndromes has been described eg: Aarskog's syndrome Lowe's syndrome (cataract in females) otopalatodigital syndrome,
  20. 20. X-linked dominant inheritance  there is clear expression of the gene mutation in heterozygous female, whereas affected males may be more severely affected, as in Albright's hereditary Eg : osteodystrophy and the Coffin Lowry syndrome.
  21. 21. Multifactorial inheritance  Many diseases are caused by the combination of multiple genetic factors, with or without environmental contributions. The genetic risks in this model do not follow the simple Mendelian ratios. Individuals will show a particular malformation when the combination of these factors surpasses the developmental threshold for the process involved.
  22. 22. factors relevant in the analysis and estimation of genetic risks in multifactorial disorders are   The risk is greatest among first-degree relatives and decreases with distance of relationship. The risk to first and second-degree relatives will be dependent on the population incidence of the specific malformation Sex differences in liability may influence the recurrence risk.
  23. 23.   If multiple family members are affected, this will increase the number of additive risk genes in that particular family and the recurrence risks with first-degree relatives more severe forms of a certain malformation tend to have greater risks of recurrence, reflecting the greater liability,
  24. 24. Maternal infections in pregnancy  Viral (rubella,herpes, cytomegaly), parasitic (toxoplasmosis) and Bacterial (lues) infections are well-known causes of mostly combinations of multiple organ maldevelopments.
  25. 25. Maternal metabolic derangements   Inherited or acquired metabolic derangements jeopardize embryonic differentiation juvenile diabetes mellitus - fetus has a 2 to 3 times elevated risk of cardiac defects, neural tube defects, skeletal absence deformities of the axial skeleton (sacral agencies) etc.
  26. 26.   Microencephaly ; cardiac defects and mental retardation are known risks to infants of mothers with phenylketonuria in myotonic dystrophy; when the mother is affected, her child is likely to show the severe, neonatal form of the disorder with striking hypotonia, whereas affected children of affected fathers show a later onset of the disease
  27. 27. Maternal use of medication   The susceptibility for drug-induced malformations might be related to maternal or fetal genetic factors, leading to the production of toxic substances in certain mothers or fetuses anticancer drugs acting as antimitotic agents,antimetabolites or as mutagens may be one or several mechanism to cause malformations
  28. 28.   anticonvulsants (diphantoin) carry an elevated risk for developing anomalies. It was observed (Heinonen et al 1977) that maternal epilepsy in the absence of maternal use of antiepileptics may increase the risk of cardiac defects and facial clefts in the fetus.
  29. 29.   Vitamin A and retinoic acid have been recognized as potent animal and human teratogens, possibly by their interference with the development of cranial neural crest cells or other cellular functions. spontaneous abortion, craniofacial malformations (microtia, anotia, maldevelopment of facial bones and calvaria, cleft secondary palate), cardiac defects; thymic abnormalities, hydrocephaly may be seen.
  30. 30.  maternal ingestion of high amounts of alcohol, in early pregnancy, has been associated with the fetal alcohol syndrome: with mild mental retardation, microcephaly, short palpebral fissures, absence of philltrum, thin upper lip, elevated risk of cardiac defects and facial clefting.
  31. 31. Exposure to radiation  Radiation influences cell division and the integrity of the DNA of the genetic code. Exposure during pregnancy carries a teratogenic risk when administrated at relatively high dosages, as in therapeutic irradiation.
  32. 32. Disturbances of embryonic differentiation and fetal growth  Amniotic disruption is known to cause craniofacial clefting and amniotic bands, together with visceral and extremity defects.
  33. 33.  Amnion rupture is known to produce compression-related malformations, leading to mechanical postural deformations. Others are caused by ischemia, resulting in focal hemorrhage and necrosis of previously normal tissues affecting the craniofacial complex (encephaloceles, hydrocephalus, palatal clefts ) , the vertebrae (spinal bifida), and the limbs
  34. 34.   Oblique facial clefts and constriction ring defects of the extremities are frequently observed in the amnion rupture syndrome, together with amniotic bands. Vascular disruption causing focal hemorrhage has been produced in experiments with a linoleic acid deficient diet, maternal injection with adrenalin and vasopressin and uterine ischemia caused by clamping of its vasculature.
  35. 35.    Genetics of cleft lip with or without cleft palatemay occur either as a single malformation, or in a complex of a syndromal association with clefting. Syndromal occurrence of CLP is estimated to represent 3% Occasional a Mendelian type of inheritance. Autosomal dominant and X-linked recessive inheritance has been observed for CP
  37. 37.  CEREBROCRANIAL DYSPLASIA     Anencephaly Microcephaly Others CERERBOFACIAL DYSPLASIA   Rhineencepahlic dysplasia Oculo-orbital dysplasia
  38. 38.  CRANIOFACIAL DYSPLASIA  a) With clefting Latero-nasomaxilary cleft  Medio-nasomaxillary  Intermaxillary clefting  Maxillo-mandibular cleft   b) With dysostosis (craniofacial helix) Sphenoidal  Spheno-frontal  Frontal  Fronto-frontal  Fronto-nasoethmoidal  Internasal 
  39. 39.           Nasal Premaxillo maxillary and intermaxillo-palatine Naso maxillary and maxillary Maxillo zygomatic Zygomatic Zygo-auromandibular Temporo-aural Temporo-auromandibular Mandibular Intermandibular
  40. 40.  c) With synostosis  Cranio synostosis     Craniofacio synostosis     Parieto-occipital Interparietal Interfrontal Spheno-frontopareital Fronto-parietal Fronto interpareital Faciosynostosis      Fronto-malar Vomero premaxillary (Binder) Perimaxillary (posterior) (clefting) Perimaxillary (anterior) (pseudocrouzon) Perimaxillary (total) (crouzon)
  41. 41.  d) With dysostosis and synostosis Crouzon  Acro-cephalosyndactaly (Apert)  Triphyllocephaly (clover leaf skull)   e) With dyschondrosis  Achondroplasia
  42. 42.  CRANIOFACIAL DYSPLASIAS WITH OTHER ORIGIN  a) Osseous Osteopetrosis  Cranio tubular dysplasia  Fibrous dysplasia b) Cutaneous  ectodermal dysplasia c) Neurocutaneous  Neurofibromatosis d) Neuromuscular  Robin syndrome  Mobius syndrome e) Muscular  Glossoschizis f) Vascular  Haemangioma  Haemolymphangioma  Lymphangioma      
  43. 43.  Anencephaly: It is due to the absent closure of the neural tube. characterized by absence of the vault of the skull. The anterior brain structures are absent and is replaced by a spongy vascular mass called pseduocephaly
  44. 44. microcephaly:  In this anomaly the brain is reduced in size and is enclosed in a small skull, whereas the cerebellum is normal in size .it may be primary (heredity) or secondary to such factors such as rubella or toxoplasmosis.
  45. 45.  Rhinencephalic dysplasias: characterized by forebrain malformations and agenesis of the midline structures of the face.
  46. 46.  Cyclopia: the forebrain fails to divide into cerebral hemispheres. lateral ventricles are fused. corpus callosum is absent. Sphenoid is hypoplastic and there is only one optic canal. Eyes are fused into a simple orbit. fused olfactory placodes are marked by a simple proboscis. All the midline structures are absent
  47. 47.  Cebocephaly:  Cerebral anomalies consist of holoprosencephaly, absence of the falx, corpus callosum, olfactory bulbs and tracts. The optic foramina lie close together in a common bony canal.  Facial dysmorphism is characterized by severe hypotelorism and by hypodevelopment of the midline structures. The nose,rudimentary and flat, encompasses a unique nostril simplified into a blind pit.
  48. 48.  Pre-maxillary aplasia or hypoplasia: 2 types  Type 1 - cerebral anomalies involves semilobar holoprosencephaly; absence of olfactory bulbs and tracts. The optic foramina lies in a common bony canal. Hypotelorism and wide palatal clefting is observed. nose is flat and the columella as well as the philltrum are absent.
  49. 49.  Type 2 - cerebral anomalies vary in degree and include approximation of the lateral ventricles. brain development may be normal. Hypotelorism is less severe, the nose is flat and palatal clefting is seen. It is often associated with cardiovascular malformations.
  50. 50. CRANIOFACIAL DISPLASIAS WITH CLEFTING  True or primary clefts are caused by the persistence of epithelium between the borders of the facial processes, due to deficient epithelial cell degeneration. Their existence is therefore restricted to –     latero-nasomaxillary clefting (naso-ocular clefts) medio-nasomaxillary clefting (cleft lip) intermaxillary clefting (cleft palate); maxillo-mandibular clefting - (macrostomia).
  51. 51.
  52. 52. Cleft lip and palate    They are one of the most common congenital anomalies occurring in about 1.97 to 1.23 /1000 in Indians and 2/1000 in mongoloids In 2/3rd of the cases cleft palate is on the left than the right side CL(P) is seen more in male and CP alone more in females
  53. 53.  The pathogenesis is heterogeneous and multifactorial and is ultimately due to deficiency of neural crest mesenchyme failing to migrate and/or proliferate to coalesce individual embryonic prominences and processes that combine into the fetal orofacies
  54. 54.  Cleft lip results from failure of fusion of the median nasal ;lateral nasal and the maxillary processes on either or both sides.  Reasons Hypoplasia of the facial processes  Altered facial geometry  Defective ability of surface epithelia to participate in the fusion process  Excessive cell depth in the fusing palatal seams, mesenchymal deficiency and post fusion rupture 
  55. 55.  Thus they can be unilateral or bilateral clefting ; complete or incomplete , of the lip and/or primary palate till the incisive foramen
  56. 56.  Embryogenesis of the palate involves movement of the initially vertical palatal shelves lateral to the tongue into a horizontal supralingual position with fusion beginning anteriorly and later in the soft palate. elevation of the palatal shelves occurs 1week before in females than males
  57. 57.  Reasons   Hypoplasia of the palatal shelves Failure of the palatal shelf elevation at the correct time due to diminished intrinsic force; increased resistance mainly by the tongue position being under developed mandible also prevents the descent Excessive head width causing failure of normal sized palatal shelves to meet
  58. 58.    Cleft palate can occur completely or incompletely involving all or part of the hard palate and soft palate as far forwards as the incisive foramen Submucous cleft- mucosa overlying the palate appears normal but fusion below has not occurred Mandibular clefts – rare and median
  59. 59. Dentofacial relationships in unoperated cases  Unilateral cleft - nasal septum and columella is deviated to the non cleft side of facial midline whereas incisors deviate towards the cleft  In UCLP and BCLP - tendency for the mandible to be retruded and for the mandibular plane to be steep with a relatively shorter posterior facial height and a longer anterior facial height
  60. 60.    Mandibular incisors- labially proclined in UCLA while lingually inclined in CLP In BCLP -maxillary intercanine dimension were much smaller than UCLP and UCLA In maxillary arch the non cleft segment has a tendency to rotate forwards hence increasing the overjet while the cleft side rotates medially hence edge to edge bite of the canines. Teeth also tend to roll superiorly hence an openbite on that side due to infraocclusion
  61. 61. Presurgical orthopedics 1 to 4weeks Lip closure 8 to 12 weeks Palatal closure Speech therapy Early orthodontics Alveolar grafting Pharyngeal flap surgery Orthognathic surgery Fixed orthodontics Repositioning palatal segments can facilitate lip repair May be preceded by primary lip adhesion as an alteration to presurgical orthopedics 18 to 24 months Closing only the soft plate initially is an alternative but one stage closure of hard and soft palate possible 6 to 11 years Articulation errors develop after a child tries to compensate for the cleft 7 –8years Usually anterior alignment and maxilla transverse expansion 6 to 10 years Needed before the permanent canines erupt; being determined by stage and sequence of eruption 9 to 19 years Occurrence of nasal air leakage 17 to 19 years Maxillary advancement and mandibular setback 17 to 19 years Replacement of missing lateral incisors
  62. 62. Maxillo-mandibular clefting  It is not formed between the maxillary and mandibular bone but between the facial processes with the same names. It is essentially a soft tissue defect affecting skin, muscle and mucosa, is usually called macrostomia. It may be unilateral or rarely bilateral. Its range of malformations varies from minor elongation of the oral angle to a wide cleft extending towards the tragal area.
  63. 63.  In the majority of cases it is associated with preauricular appendages or fistulae that may be found anywhere between the angle of the mouth and the tragus occasionally also with temporoaural and/or mandibular abnormalities.
  64. 64. CRANIOFACIAL DYSPLASIAS WITH DYSOSTOSIS  MEDIAN CLEFT FACE SYNDROME/ fronto-nasal syndrome/Internasal dysplasia  A whole spectrum of malformations may be observed and the severity of the reported examples can be graded in a sequence.
  65. 65.  At one end is bifidity of the nasal tip or dorsum, sometimes associated with a median cleft lip and with duplication of the labial frenulum. Grooves and folds along the dorsum nasi are also occasionally observed.
  66. 66.  At the other end widely separated nasal halves and extreme orbital hypertelorism, including other anomalies caused by frontonasoethmoidal dysplasia,
  67. 67.   Premaxilla may be retarded in development and bifid, The maxilla may show a keel-shaped deformity, with the incisors rotated upward in each half of the alveolar process. Sometimes a medial cleft of the palate is also found and this may extend upwards to the cribriform plate as an inverted V
  68. 68.  NASAL APLASIA - characterized by complete absence of one nasal half. The nasal cavity is missing and pneumatiziation of the maxillary ethmoidal and frontal sinuses has failed . There is no nasolacrimal duct. The affected half of the maxilla is hypoplastic and the palatal vault is high and acutely arched .
  69. 69.  NASAL DUPLICATION-ranges from a supernumerary nostril in an otherwise normal nose to duplication of the upper face (diprosopia). The supernumerary nostril is usually the medial one. It may end blindly, be stenotic or open into a nasal cavity..
  70. 70.  In the milder cases there may be one continuous midline septum, while in the more severe cases duplication of the anterior part of the septum or full duplication may be observed
  71. 71. Treacher Collins' syndrome /Zygomatic dysplasia / mandibulofacial dysostosis   caused by a change in a single gene & this Treacher Collin gene is located on chromosome 5 inherited as an autosomal dominant gene with complete penetrance but variable expressivity .
  72. 72. Features      Malar & zygomatic hypoplasia Anti mongoloid slant of the palpebral fissures Coloboma in the outer third of the lower eyelid(75%) deficiency of eyelashes in the medial third of these eyelids Unusual tongue shape (25% cases)
  73. 73.    Hair extending down & forward from the temporal region on to the cheek. flattening of the cheeks body of the mandible is frequently hypoplastic and the chin severely retruded.
  74. 74.   Radiographs show antigonial notch in the lower border of the mandible along with hypoplasia of coronoid & condylar processes. Cleft palate is found in approximately 30% of the cases.
  75. 75.  posterior maxillary height is decreased and anterior height is increased resulting in a steep anteroinferior cant. open bite is related to shortening of the mandibular rami and premature posterior teeth contact
  76. 76.  deformed external ear,ear tags & pre-auricular pits,absence of external auditory meatus frequently accompanied by malformations of the middle ear
  77. 77. Miller syndrome / Postaxial acrofacial dysostosis    has resemblance to that of mandibulofacial dysostosis but there is postaxial limb deficiency. Malar bones are hypoplastic with downslanting palpebral fissures.Eyelids may exhibit coloboma Cleft lip and/or cleft palate are common
  78. 78.   pinnae tend to be cup-shaped. The external auditory canals and middle ears are often malformed. Various congenital heart defects have been documented
  79. 79.   Postaxial agenesis of a digit of the hands and feet is seen Abnormal thumbs occur in about 50%. The radius and ulna tend to be short and, in some cases, there is radioulnar synostosis
  80. 80. Nager syndrome / Preaxial acrofacial dysostosis    similar to mandibulofacial dysostosis. The zygomatic hypoplasia results in downslanting palpebral fissures. The lower eyelids exhibit colobomas reduced numbers of eyelashes
  81. 81.     External ear defects and cleft palate are common Velopharyngeal insufficiency Micrognathia is usually more marked mild mental retardation
  82. 82.   thumb is hypoplastic or aplastic and the anomalies are usually asymmetric Unilateral radial hypoplasia seen in 50% cases
  83. 83. HEMIFACIAL MICROSOMIA / Temporo-auromandibular dysplasia / Goldenhars syndrome Facial asymmetry with deviation of the chin towards the affected side and ear anomalies are the 'hallmarks' of this entity.
  84. 84.  Ear - anotia to an ill-defined mass of tissue that is displaced anteriorly and inferiorly, to a mildly dysmorphic ear are found in over 65%. Preauricular tags of skin and cartilage are extremely common, and maybe unilateral or bilateral.
  85. 85.   Both the horizontal and ascending ramus of the mandible may have macrostomia. malformations are most severe in the condylar region and less near the middle sector, with flattening of the gonial angle and accentuation of the antegonial notch.
  86. 86.  Hypoplasia of the maxilla on the affected side is shown by obliquity of the occlusal plane
  87. 87.    A depression and recession of the inferiolateral angle of the orbit indicates involvement of the malar bone. Orbital dystopia may be observed temporalis, masseter and lateral pterygoid may be differentially hypoplastic. A fused mass may be observed on CT scans, containing elements of each of these muscles.
  88. 88.   Aplasia of the levator veli palatini, resulting in abnormal elevation of the soft palate towards the unaffected side parotid gland may be absent,producing a preauricular concavity.
  89. 89.   maxillary, temporal, and malar bones on the involved side are reduced in size and flattened Narrow external auditory canals are found in more mild cases; atretic canals are seen in more severe cases.
  90. 90.   Epibulbar tumors are found in about 35% appear as solid yellowish or pinkish white ovoid masses; They occur most often at the inferotemporal quadrant at the limbus. Blepharoptosis or narrowing of the palpebral fissure occurs on the affected side in about 10%
  91. 91.    Unilateral or bilateral cleft lip and/or cleft palate occurs in 7-15% of patients Tooth development tends to be delayed and missing on the affected side 35% have velopharyngeal insufficiency
  92. 92. CRANIOSYNOSTOSIS      conditions in which one or more sutures close too early causing problems with normal brain & skull growth Occurs 1 in 2000 live births Affects males twice as often as females Most often occurs sporadically Can be inherited as: Autosomal recessive  Autosomal dominant 
  93. 93. Pachycephaly/ Parieto-occipital    Premature closure of the lambdoid sutures found isolated, associated with synostosis of the sagittal suture or as part of multiple synostoses. It causes hypoplasia and flattening of the occiput, with slight compensatory development of the ipsilateral anterior cranial region.
  94. 94. Scaphocephaly/ interparietal  elongated narrow shape of the skull, resembling the hull of a ship resulting from early fusion of the interparietal sagittal suture
  95. 95.   From front, the skull is high and narrow ; from side, skull is elongated from front to back with posterior occipital protrusion and excessive bulging of the frontal bones anteriorly .
  96. 96. Trigonocephaly / interfrontal   premature closure of the frontal suture. The frontal area becomes triangular. extent of skull malformation depends on how early the synostosis takes place; this usually occurs during intra-uterine life.
  97. 97.   Results in a prominent ridge running down the forehead Forehead may look pointed like a triangle with closely placed eyes
  98. 98. Plagiocephaly/sphenofrontoparietal   Asymmetric malformation secondary to fusion of one half of the coronal suture. Mainly affecting the sphenotemporal suture
  99. 99.   Produces flattening of forehead & the brow on the affected side with forehead excessively prominent on the opposite side Eye on the affected side may also have a different shape
  100. 100. Brachycephaly / frontoparietal   refers to craniofacial dysmorphism secondary to premature bilateral coronal stenosis the skull is shortened in the sagittal plane and compensatory lateral development occurs in breadth or in height.
  101. 101. Binder's syndrome / Maxillo-nasal dysostosis   nasomaxillary deformity which mainly affects the lower part of the nose and the premaxilla It is due to an alteration of the inferior mesenchymal portion of the medial strut formed by the vomer pushing the premaxilla forward.
  102. 102.   Nasofrontal angle is absent and the nose is hypoplastic with flattened alae with nostrils being half moon shaped Aplasia of ANS is seen and the frontal sinuses are hypoplastic
  103. 103.    Philtrum is poorly developed Premaxilla is hypoplastic with shortening of the dental arch All patients have relative mandibular prognathism with anterior crossbite
  104. 104. Crouzon syndrome     The term refers to a typical deformation, but this anomaly may be due to various causes. The developmental arrest affects the Maxilla, the Orbit and the Vault It is an autosomal dominant condition. Two genes known to be associated are FGFR2 and FGFR3.
  105. 105.  Cranium    Some people have craniosynostosis at birth in which several sutures are always involved . A very pronounced bregmatic boss “Clown’s Hat” may be observed. The severity of cranial malformations does not parallel that of face
  106. 106.  Eyes –     Exopthalmos, the cardinal sign is constant eyes give the patient a ‘ toad like ’ appearance. This appearance is due to hypoplasia of the maxilla, of the malar bone and of the orbital roof, resulting in the reduction in the size of the orbital cavities Divergent strabismus or defective convergence is frequent Hypertelorism may be present
  107. 107.  Face –      flattened and sometimes concave. Parrot beak appearance of nose b’coz of maxillary retrusion. Dental malpositioning is common, sometimes with supernumerary or abnormal ‘peg-top’ teeth. Palate is high, arched, narrow & pointed nasal root is flat, the dorsum and the nostrils are wide.
  108. 108.  Vision   Lack of skeletal protection may result in exposure keratitis or even dislocation of the globe. Respiration  Constriction of airway may result in chronic or intermittent respiratory problems.
  109. 109.  Five clinical forms seen –  Maxillary Crouzon -minor exorbitism is seen with severe maxillary retrusion
  110. 110.    Pseudo-Crouzon - it is based on the combination of moderate exorbitism and inferior orbital retrusion. prominent forehead and marked digital impressions are seen Occlusion is normal.
  111. 111.  facial Crouzon- Retromaxillism with /without exorbitism in the absence of cranial abnormalities or with discreet frontal flattening. These malformations are due to fusion of the posterior part of the perimaxillary sutural system. With Exorbitism Without Exorbitism
  112. 112.  Cranial Crouzon - a sphenoidal dysostosis with variable facial involvement occlusion is mostly normal
  113. 113.  Craniofacial Crouzon - Disproportion b/w minor degree of facial retrusion & severity of cranial involvement
  114. 114. Apert's syndrome    inherited in an autosomal dominant manner. The gene involved is FGFR2 (fibroblast growth factor receptor 2) located on chromosome 10 of those having craniosynostosis, 4-5% have Apert’s syndrome
  115. 115.  In infancy- midline calvarial defect from the nose to the posterior fontanelle. The defect is widely patent during infancy and only gradually fills in completely during the third year of life. Bony islands form within the calvarial defect
  116. 116.      Down slanting palpebral fissures, strabismus, orbital hypertelorism. ears may appear low set and Otitis media is common Midface deficiency (maxillary hypoplasia). Class III malocclusion is present, with anterior open bite and anterior and posterior crossbite Delayed dental eruption
  117. 117.    symmetric syndactyly of hands and feet involving 2nd , 3rd and 4th digits. fusion of some bones in the neck and differences in the arms that can be seen on Xrays. Thumb and big toe may be broader than normal and deviates radially
  118. 118.  palate is high arched; constricted, and has a median furrow. Lateral palatal swellings (Hyaluronic acid) are present, which increase in size with age. The maxillary dental arch is Vshaped with severely crowded teeth and bulging alveolar ridge
  119. 119.  growth pattern is unique.   Length and weight at birth tend to be increased and head circumference is approximately normal. in infancy and childhood consists of a gradual decrease in height so that most values fall between the 5th and 50th centiles.
  120. 120. Pfeiffer syndrome      Mostly autosomal dominant transmission Main featurescraniosynostosis,broad thumbs, broad great toes, and soft tissue syndactyly of the hands skull is usually turribrachycephalic. Craniofacial asymmetry may be present Maxillary hypoplasia
  121. 121.     Hypertelorism, downslanting palpebral fissures,ocular proptosis, and strabismus are common palate is highly arched, alveolar ridges are broad, and teeth are crowded thumbs and great toes are broad Mild soft tissue syndactyly
  122. 122. Saethre-Chotzen syndrome    Craniosynostosisis a facultative feature Brachycephaly or acrocephaly with coronal sutural synostosis is seen, producing plagiocephaly and facial asymmetry Frontal bossing, parietal bossing, and flattened occiput with late-closing fontanels are seen
  123. 123.      Low-set frontal hairline is commonly observed. Ptosis of eyelids,hypertelorism, and strabismus are common ears may be low set, small, posteriorly angulated nasofrontal angle may be flattened Maxillary hypoplasia
  124. 124.    Oral anomalies include narrow or highly arched palate, cleft palate supernumerary teeth, enamel hypoplasia Some degree of brachydactyly and partial cutaneous syndactyly is present
  125. 125. cloverleaf anomaly ,Triphyllocephaly ,T  Characterized by hydrocephalus and a trilobular skull with synostosis of the lambdoidal and coronal and metopic sutures, with bulging of the cerebrum through the open sagittal sutures and a widely patent anterior fontanelle.
  126. 126.  main characteristics      hydrocephaly Retrusion of orbital roof exorbitism maxillary retrusion severe downward displacement of ears and zygomatic arches
  127. 127.       antimongoloid slanting, nasal flattening and an arched palate Macrostomia;macroglossia ;oblique facial clefting Iris colobomas and blindness Obstructed nasolacrimal ducts Absent external auditory canals
  128. 128. CRANIOFACIAL DYSPLASIAS WITH DYSCHONDROSIS ACHONDRODYSPLASIA-      deficient formation of enchondral bone transmitted as an autosomal dominant trait. Height is usually under 1.4 m. Sort, thick muscular extremities.
  129. 129.     The skull is voluminous with a prominent occiput and a bulging forehead overhanging a small impacted nose. Legs are bowed, hands small ,fingers stubby Cranial base is shortened. The alterations predominantly affect the ethmoidal part and the cribriform plate
  130. 130.     middle third of the face is short. lower third, which is long and protruding. The upper lip is shortened and labial incompetence is associated with buccal respiration. Class III malocclusion is seen.
  131. 131. Ectodermal dysplasia    affect series of ectodermal derivatives including the teeth the sweat glands and the of the adnexa the skin derivatives(nails, hairs, setaceous glands). hypohydrosis,hypotrichosis, hypodontia are the main characteristics sex-linked recessive trait. It occurs in males
  132. 132.  Main features      Thin hair Thin and/or small nails Person cannot perspire and consequently suffers from hyperpyrexia & inability to endure warm temp the midface is retruded due to deficient alveolar growth. Jaw and facial development are normal forehead is prominent and the nose flattened
  133. 133.     the skin is thin and dry with multiple ridges hairs are scarce and underdeveloped. complete or partial absence of teeth & when present teeth may be truncated or cone shaped. Palatal arch is frequently high and a cleft palate may be present.
  134. 134.    Forehead is prominent and nose flattened xerostomia may be present. Hypoplasia of the nasal & pharyngeal mucous glands which leads to chronic rhinitis &/or pharyngitis, sometimes associated with dysphagia & hoarseness.
  135. 135. NEUROFIBROMATOSIS   characterized by neurofibromas or other neural tumours and by focal cutaneous hyperpigmentation (cafeaulait spots) caused by aggregation of melanoblasts in the basal layer of the epidermis. derivatives from the neural crest, are primarily affected.
  136. 136. Skeletal malformations –  macrocranium,  interosseous cysts and perforating defects,  expansion of the middle cranial fossa,  hypoplasia of the sphenoid resulting in wide areas of communication between the cranial cavity and the orbit  downward displacement of the zygoma, maxilla and the mandible on the affected side.
  137. 137. Pierre Robin syndrome    It’s a combination of problems that begins with Micrognathia . Causing not enough room for the tongue to lie flat in the mouth, so it rests at the back of the mouth (Glossoptosis) Glossoptosis prevents palate from closing resulting in Cleft palate
  138. 138.  It is a disturbance of muscular maturation of nervous origin which affects the masticatory muscles, the tongue and the pharyngeal slings
  139. 139.   Retromandibulism is caused by deficient activity of the pterygoid muscle, which is unable to bring the mandible forward. Spontaneous improvement is common owing to progressive maturation of the affected muscles and after the 6th month
  140. 140. Stickler syndrome  It is a connective tissue disorder caused by a change in one of the 3 genes for connective tissue.
  141. 141.  Features :  Cleft palate and a small lower jaw. Of those with stickler syndrome , 60% have pierre robbin syndrome  Eyes - near sightedness.  increased risk of cataracts & retinal detachment.
  142. 142.    Hearing loss of some degree affects around 80% patients. Joints may be enlarged and hyperextensible. About 50% of the affected people have Mitral Valve Prolapse (MVP).
  143. 143. Mobius syndrome    involves paralysis of certain facial nerves (unilateral or bilateral). Mainly the intra-cerebral nuclear part of the 6th & 7th nerves are affected. face is motionless with a characteristic nasiolabial grin.
  144. 144.     Patient cannot do side to side eye movements, but they will be able to move them up & down. Blinking action may be difficult hypoglossia & microstomia may be seen skeletal involvement include clubfoot, missing or webbed fingers
  145. 145. Vascular Malformations and Hemangiomas  Causes     Usually sporadic Can be inherited as an autosomal dominant trait. May be a manifestation of many different genetic syndromes Females are more often affected
  146. 146. Hemangioma :    A type of birth mark. Most common benign tumor of the skin. May be present at birth (faint red mark) or may appear in the first months after birth. Also known as port wine stain, strawberry hemangioma, and salmon patch
  147. 147. Vascular Malformations:   type of birth mark, or congenital growth made up of arteries, veins, capillaries, or lymphatic vessels. Also known as lymphangioma, arteriovenous malformations, & vascular gigantism depending upon the type of vessel affected
  148. 148. Hemangiomas Usually not present at birth or are very faint red marks After birth, they grow rapidly- often faster than the child’s growth. Over time, they become smaller (involute) and lighter in colour Vascular malformations These are present at birth. Enlarge proportionately with growth of the child. They do not involute spontaneously and may become more apparent as the child grows.
  149. 149. Velocardiofacial syndrome   autosomal dominant inheritance Features  Face -Approx 40% are microcephalic  face is long with vertical maxillary excess malar flatness and mandibular retrusion.  nose is prominent with squared nasal root, hypoplastic alae nasi, and narrow nasal passages
  150. 150.     Adenoids are hypoplastic Narrow palpebral fissures with blue suborbital coloring occurs Small ear auricles and minor thickening of the helical rims have been seen Multiple cardiac anomalies are present in over 80%, especially VSD
  151. 151.   Cleft palate (35%), submucous cleft palate (33%), and occult submucous cleft palate or velar paresis (33%) resulting in hypernasal speech have been found in nearly all patients Class I malocclusion is common .The pharynx is hypotonic
  152. 152. Cleidocranial dysplasia     autosomal dominant inheritance individuals are usually short skull is brachycephalic, with pronounced frontal and parietal bossing. maxilla and zygomas are hypoplastic.
  153. 153.    skull is large and short Closure of the anterior fontanel and sagittal and metopic sutures is delayed, Secondary centers of ossification appear in the suture lines, and many Wormian bones are formed
  154. 154.    Delayed union at the mandibular symphysisis characteristic. nose is broad at the base, with the bridge depressed. neck appears long, and the shoulders are narrow and droop markedly
  155. 155.   Clavicles are absent unilaterally or bilaterally variations in size, origin, and insertion of muscles related to the clavicles, especially the sternocleidomastoid,trapezius, deltoid, and pectoralis major
  156. 156.   palate is highly arched. Submucous cleft of palate and complete cleft of the hard and soft palates is seen Development of the premaxilla is poor with relative prognathism
  157. 157.   multiple supernumerary teeth Multiple crown and root abnormalities, crypt formation around impacted teeth, ectopic location of teeth, and lack of tooth eruption
  158. 158. CFA TEAM  It is agreed worldwide that management of patients with CFAs is best provided by a multidisciplinary team of specialists.         plastic /craniofacial surgeon Neurosurgeon Pediatrician Orthodontist Pediatric dentist Speech & language specialist Otolaryngologist Audiologist
  159. 159.      Opthalmologist Genetic councellor Nurse team coordinator Social worker Psychiatrist
  160. 160.   The surgeon and the orthodontist plan at the very beginning for diagnosis and treatment planning . A detailed treatment plan should be written, including a specific definition of what orthodontic teeth movement is to be done prior to surgery; how the orthodontic appliance will be used for surgical fixation; and what orthodontic tooth movement will be required to finish the case following surgery.
  161. 161.  The efficacy of orthodontic and orthopedic treatment in case of craniofacial anomalies depend on the type of deformity, taking mainly into consideration the growth potential.
  162. 162. Presurgical orthodontic treatment    The main objective of this stage is to arrange the teeth so that they will approximately fit when the arches are surgically moved Continuous arch wire technique Segmented arch technique
  163. 163.  Continuous arch wire technique   Used for total maxillary surgical procedures. progressively the size of the arch wires is increased to achieve final stability in the postsurgical occlusion. If .018 slot is used, the minimum size of arch wire for a total maxillary surgical splint is .016x.022 without palatal splinting and .016x.016 if acrylic or metal palatal splinting
  164. 164.  Segmented arch technique  used in preparation for a segmented surgical procedure. orthodontic treatment time is shortened because alignment of each segment is done without being concerned about the relationship of the segments to each other.
  165. 165.  Disadvantage- when surgical suspension wires are used inadequate fixation will allow the crowns of the segments to be buccally torqued, causing posterior buccal overjet and open bite
  166. 166. Post surgical orthodontic treatment  Involves various final adjustments in the occlusal relationships and the final tooth alignment. This final phase usually lasts form 3 to 4 months
  167. 167. Transverse Maxillary Deficiency  3 main factors should be considered amount of arch length discrepancy In moderate to minimal space deficiency, RME will increase arch circumference sufficiently to permit alignment of the crowded anteriors without the necessity of extraction of premolars
  168. 168.  arch morphology Cases in which a transverse deficiency exists will exhibit a narrow, tapering arch form. The discrepancy will be most pronounced in the canine region.  If nonextraction orthodontic therapy is decided lateral maxillary osteotomies and rapid maxillary expansion is the treatment of choice to achieve proper arch morphology
  169. 169.   Cases which do not exhibit severe constriction in the anterior region, a two-piece maxillary procedure with a midline osteotomy and resultant diastema may be done consideration to wound healing after creation of an interincisal space should be done. When excessive the gingiva may detach and interproximal bone may be exposed with a possibility of devascularization and osteonecrosis of the underlying bone
  170. 170.  vertical dimension In cases exhibiting an anterior open-bite with a severely accentuated maxillary curve of spee ; orthodontic treatment by extrusion of incisors and/or intrusion of posterior teeth may compromise the postsurgical stability. Segmentalized orthodontic therapy with a three-piece or four-piece maxillary surgical procedure is indicated
  171. 171. True Unilateral Transverse Maxillary Deficiency  should be treated by maxillary segmental surgery with the osteotomy mesial to the most anterior tooth in palatal cross-bite. Orthodontic management of such patients will depend upon the necessity of extractions for alignment of crowded anterior teeth.
  172. 172.  In some cases the apparent maxillary deficiency may be due to the ectopic eruption of one or two posterior teeth in one quadrant and be treated by orthodontic means
  173. 173. Transverse Maxillary Excess   Seen mostly in cases with skeletal class II The aim of presurgical orthodontics in these cases is to position the malaligned teeth over their bases so that the maxilla can be surgically positioned into a satisfactory overbite-overjet relationship
  174. 174.  Many technical modifications of the Le Fort I osteotomy are feasible to facilitate simultaneous anteroposterior, vertical, or horizontal movements of the anterior and posterior segments of the maxilla.
  175. 175. Hemifacial Microsomia   Harvold advocates the use of activators to guide eruption of teeth and prevent midline shift until the time of surgery. This approach may have a stimulator effect on muscle development and serves to prevent canting of the occlusal plane. conventional orthodontic tooth movement is of little value
  176. 176.  In a cephalometric study by Bachmayer, Ross and Munro (AJO 1986) on maxillary growth following Le Fort III osteotomy in children with Crouzon-Apert Pfeiffer (CAP) syndromes it was found that the maxillary growth after surgery is negligible. Vertical maxillary growth following surgery is identical to that in unoperated CAP and normal children, amounting to 1.3 mm/yr.
  177. 177.  Olow-Norderam and Thilander (AJO 1989) studied the influence of orthodontic treatment on Binder's syndrome . Although the orthodontic treatment led to acceptable dental conditions in some patients, no influence on craniofacial growth could be demonstrated.
  178. 178.  Graysun et al ( AJO 1983) in a study on unilateral craniofacial microsomia said that the lateral ceph analysis of patients with unilateral craniofacial microsomia confirmed the clinical impression of an increased gonial angle and decreased ramal height and body length on the affected side.
  179. 179.   The ramal height on the unaffected side was also decreased. The mandibular plane angle was greater than normal on both affected and unaffected sides. They conclude that the unaffected side too is characterized by abnormalities in the skeletal anatomy.
  180. 180.  Schudy ( JCO 1986) described the surgical correction of Crouzon's and Apert's syndromes by Dr. Paul Tessier. The orthodontic treatment involves no special procedures and is performed in the usual manner. Good arch forms were established for the prospect of good future occlusion before the surgery was performed. After the surgery was done brackets remained on for a further 24 months to improve the occlusion
  181. 181. Skeletal Mandibular Deficiency.  3 types of dentoalveolar problems that require orthodontic treatment often accompany it –   Malalignment of the teeth ie: crowding or protrusion. Most of these are dental compensation for the skeletal deficiency crossbite tendency appears as the mandible is advanced.
  182. 182.  Deep bite, with an accentuated curve of Spee due either to elongation of the mandibular incisors or due to vertical under development of the premolar segment of the arch.
  183. 183. Distraction ostegenesis.   specially effective in cases of unilateral mandibular deficiency involves the deliberate fracturing of the bone side and holding it in close but not exact approximation by means of a complex system of extra oral positioners
  184. 184.  Principle- osteogenesis takes place in the intervening space. As soon the bone formation is complete the set up is adjusted so that the bone segments move a bit away from each other. The bone segments are held in that place till new bone is formed and so forth, till the bone achieves the required length.
  185. 185.  General principles of treatment   Orthodontic intrusion of teeth must be done prior to surgery. Extrusion of teeth can be done following surgery. tooth movement in the transverse or crossbite plane of space can be deferred until after surgery.
  186. 186.  Tooth movement that occurs immediately after surgery, while the patient is in IMF but before bone healing occurs should also be considered. Orthodontic tooth movement takes place to maintain the dental relationship. The mandibular dentition slips forward on the mandible (2mm) increasing the prominence of the lower incisors. The maxillary dentition is retracted, decreasing the prominence of the maxillary incisors.
  187. 187.  Moving teeth laterally for crossbite correction introduces interferences along the line of the cusps and leads to some lengthening of the posterior vertical dimension and a downward positioning of the mandible.   desirable - skeletal deep bite undesirable - steep mandibular plane angle
  188. 188. Orthodontic Procedures To Be Avoided Prior To Surgery For Mandibular Deficiency.  use of Class II intermaxillary elastics to reduce overjet  produces forward positioning of the lower incisors. will cause vertical extrusion of the anterior maxillary segment, tending to extrude teeth
  189. 189. Mandibular excess   characterized by a prominent lower third of the face. orthodontic treatment modalities Chin-cap therapy  Activator appliances  Fully banded orthodontic appliances.
  190. 190. Chin-cap therapy  the pressure against the chin would be transmitted to the growing areas of the mandible and the growth would be impeded or at least directed more favorably.
  191. 191.  two approaches  impede mandibular growth by applying heavy pressure in the vicinity of the growing condyle of the mandible. The force is applied upward and backward, opposite to the vector of downward and forward mandibular growth. redirect the growth of the mandible. It is based on the principle that when the mandible is rotated downward it rotates backward.
  192. 192. Activator appliances:   effective in the treatment of class I I I malocclusion using a class III activator causing a downward and backward displacement of the mandible. It may be trimmed to allow posterior teeth to erupt so that the vertical dimension is maintained
  193. 193. Fully banded orthodontic appliances  can only be carried out satisfactorily without surgery only when the problem is minor, because it is very difficult to position mandibular teeth so as to camouflage the mandibular prominence.
  194. 194. CONCLUSION  Although craniofacial anomalies have been reported and depicted from ancient times; a team approach to diagnosis ; management and treatment of dysmorphic patients is a recent event. understanding of normal and pathogenesis helps us diagnose and treat to the best of our capabilities…..
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