Developmental oro facial disturbances part ii


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Developmental oro facial disturbances part ii

  3. 3. SOFT TISSUE ABNORMALITIESCongenital Lip Pit Congenital invaginations of lower lip Dr. Ali Tahir Results from persistance of lateral sulci on emb. mandibular arch May involve the paramedial portion of vermilian of the lower or upper lip (paramedial lip pit) Autosomal dominant May be associated with a cleft lip or cleft palate (vanderwoude syndrome) Unilateral or bilateral
  4. 4. COMMISSURAL LIP PITS Small mucosal invaginations at corners of the mouth Dr. Ali Tahir Autosomal dominant More common in males 1-4mm deep Result from failure of fusion of embryonic maxillary & mandibular processes Develop later in life? May express saliva
  5. 5. DOUBLE LIP Anomaly characterized by horizontal fold of mucosal Dr. Ali Tahir tissue that is usually located on inner aspect of upper lip May be congenital or acquired Autosomal dominant May be associated with Ascher Syndrome  Blepharochalasis  Non-toxic thyroid enlargment
  6. 6. Dr. Ali Tahir
  7. 7. SOFT TISSUE ABNORMALITIESFrenal Tag Redundant piece of mucosal tissue that projects Dr. Ali Tahir from the maxillary labial frenum Autosomal dominant Mistaken for fibrous hyperplasia, histology shows normal mucosa
  8. 8. MICROGLOSSIA Uncommon developmental condition of unknown Dr. Ali Tahir cause Tongue is smaller than normal Entire tongue may be missing (aglossia) Mostly occurs in association with oromandibular-limb hypogenesis syndrome
  9. 9. ANKYLOGLOSSIA Developmental anomaly Lack of normal tongue mobility because of Dr. Ali Tahir abnormal fibrous tissue attachment between its ventral surface and floor of mouth (tongue tie) 4 times more common in boys Can range in severity High muco-gingival attachment of frenum results in periodontal problems
  10. 10. SOFT TISSUE ABNORMALITIESMacroglossia Congenital  Down’s Syndrome  Beckwith-Wiedemann Dr. Ali Tahir Syndrome  MEN(IIB) Syndrome  Hemihyperplasia  Cretinism  Neurofibromatosis Secondary  Lymphangioma  Heamangioma  Myxedema  Amyloidosis  Acromegaly  Cretisnism  Angioedema  Carcinoma & other tumours
  11. 11. MACROGLOSSIA Most commonly caused by vascular malformations & muscle hypertrophy Dr. Ali Tahir Manifested by  Noisy breathing  Drooling saliva  Difficulty in eating  Crenated lateral border of tongue  Open bite Associated with Beckwith Wiedemann Syndrome
  12. 12. BECKWITH WIEDEMANN SYNDROME Omphalocele Visceromegaly Dr. Ali Tahir Gigantism Neonatal hypoglycemia Increased susceptibility to visceral tumours
  13. 13. SOFT TISSUE ABNORMALITIESFordyce Granules Multiple small yellowish maculo-papular structures Dr. Ali Tahir Collection of ectopic sabaceous glands within oral cavity Most commonly on buccal mucosa & upper lip 80% of population More common in adults than children, puberty may stimulate their development
  14. 14. Dr. Ali Tahir
  15. 15. HISTOPATHOLOGY Dr. Ali Tahir
  16. 16. LEUKOEDEMA Accumulation of fluid within spinous layer of epithelial cells of buccal mucosa Clinical Features: Dr. Ali Tahir  Involves buccal mucosa bilaterally  Lateral boder of tongue  Asymptomatic translucent grayish white  More common in blacks (70-90% of blacks)  Doesn’t rub off. Surface may be wrinkled  Typically occurs bilaterally on buccal mucosa  White appearance disappears when the cheek is stretched (or everted)
  17. 17. Dr. Ali Tahir
  18. 18. LEUKOEDEMAHistopathology Mild degree of parakeratosis, acanthosis and accumulation of fluid and glycogen results in Dr. Ali Tahir enlarged spinous layer. Cells have pyknotic, shrunken nuclie
  19. 19. Dr. Ali Tahir
  20. 20. SOFT TISSUE ABNORMALITIESWhite Sponge Nevus Autosomal dominant hereditary condition Dr. Ali Tahir Oral mucosa is white, thickened and folded May be present at birth or may appear at early childhood/adolescence Cause:  Mutation in keratin pair K4 and K13Clinical Features Asymptomatic, whitish May appear translucent similar to leukoedema May be widespread involving buccal mucosa, tongue, gingiva, palate, floor of mouth
  21. 21.  Histopathology Mild to moderate Dr. Ali Tahir  Hyperparakeratosis  Acanthosis  Intracellular edema of spinous cell layer
  22. 22. SOFT TISSUE ABNORMALITIESLingual Thyroid Nodule A submucosal nodule of accessory thyroid tissue Dr. Ali Tahir located in mid-posterior tongue At 7th embryonic week, thyroid bud normally descends into the neck to its final position The site where it descends, invaginates to form foramen caecum
  23. 23.  Clinical Features  More common in females Dr. Ali Tahir  Becomes clinically apparent at puberty & adolescence, pregnancy or menopause  2-3cm smooth sessile mass located at mid posterior dorsum of tongue  Dysphagia, dysphonia, dyspnea  In 70% of cases, this ectopic gland is the patients only thyroid tissue Histopathology:  Normal thyroid tissue, although fetal thyroid tissue may be seen
  25. 25. DISTURBANCES INVOLVING BONEHemifacial hypertrophy Cause: Dr. Ali Tahir  Increased neurovascular supply to the affected face Increased prevalence of abdominal tumours especially Wilm’s tumor of kidney
  26. 26. CLINICAL FEATURES: Female predilection More on right side Enlargement of affected side of face, soft tissues, teeth, frontal bone, maxilla, palate, mandible, alveolar Dr. Ali Tahir process, condyles Skin of affected side is thick & coarse Hypertrichosis Unilateral enlargement of cerebral hemispheres may result in  Retardation  Seisures
  27. 27. CLINICAL FEATURES Premature development & eruption of teeth which may be enlarged in size Dr. Ali Tahir Unilateral macroglossia MalocclusionD.DNeurofibromatosisFibrous dysplasia
  28. 28. DISTURBANCES INVOLVING BONEHemifacial Atrophy (Romberg Synd) Dr. Ali Tahir Degenerative condition characterized by atrophic changes affecting one side of face Cause:  Peripheral Nerve Dysfunction  Trauma  Infection
  29. 29. CLINICAL FEATURES Onset usually in first two decades of life Begins as atrophy of skin & subcutaneous Dr. Ali Tahir structures Bone may also be affected Female predilection Skin may show dark pigmentation Sharp line of demarcation may be obvious resembling a linear scar between normal & abnormal skin (strike of sword) Enophthalmos Hollowing of cheeks & orbit TN, migraine, or
  30. 30. CLINICAL FEATURES Mouth & nose deviated towards the affected Dr. Ali Tahir side Unilateral posterior open bite Delayed eruption
  31. 31. SYNDROMES
  32. 32. HEREDITARY ECTODERMAL DYSPLASIA Genetic disorder X-linked & autosomal recessive Dr. Ali Tahir Males & females Affects skin appendages (hair, sweat glands) & teeth Mortality is related to inability to control body temperature b/c of absence of sweat glands Hypodontia or rarely anodontia
  33. 33. CLEIDOCRANIAL DYSPLASIA Abnormal growth of bone of face, scalp, clavicle Dr. Ali Tahir and failure of tooth eruption Autosomal dominant Genes that influence osteoblast differentiation are affected Short statured with frontal & parietal bossing
  34. 34. CLINICAL FEATURES Disproportional of facial and skull bones Capacity to bring the shoulders near the midline of Dr. Ali Tahir chest Muscles ass with the clavicle are also affected Frontal bossing Prolonged retention of deciduous teeth Delayed or failure of eruption of permanent & supernumerary teeth
  35. 35. CLEIDOCRANIAL DYSPLASIARadiographic features Wormian bones showing tortuous suture lines Dr. Ali Tahir Sutures show delayed closure Lack of nasal bridge Clavicles may be hypoplastic or absent Retention of primary dentition Supernumerary teeth Mandible looks enlarged because of hypoplastic maxilla
  36. 36. Dr. Ali Tahir
  37. 37. SYNDROMESCrouzon Syndrome (Cranio-facial Dysostosis) Autosomal Dominant disorder Dr. Ali Tahir Characterized by premature closure of cranial bone sutures Cause: Mutation in fibroblastic growth factor 2
  38. 38. CROUZON SYNDROME (CRANIO-FACIALDYSOSTOSIS)Features Maxillary hypoplasia Short upper lip Dr. Ali Tahir Widely spaced eyes Shallow orbits with protruding eye-balls Crowding of Maxillary teeth Posterior cross-bite Poor vision and hearing Calcified stylohyoid ligament Headaches due to increased intracranial pressure
  39. 39. TREACHER COLLINS SYNDROME(MANDIBULOFACIAL DYSOSTOSIS) Abnormal development of Dr. Ali Tahir structures from first and second pharyngeal arches Autosomal dominant
  40. 40. CLINICAL FEATURES Notched lower eyelid Hypoplastic zygoma Depressed cheeks Dr. Ali Tahir Downward slopping of lower eyelids Narrow face Condylar and coronoid hypoplasia with retruded chin Hypoplastic earlobes Macrostomia Hypoplastic ear lobes, malformed pinnae, defective middle year structures, resulting in varying hearing loss Cleft palate may be seen
  41. 41. Dr. Ali Tahir
  42. 42. ORAL-FACIAL-DIGITAL SYNDROMEX-linked dominant Dr. Ali TahirFeatures Frontal bossing Flat mid-face Lateral displacement of inner canthi Pseudo-cleft of upper lip Ankyloglossia
  43. 43. ORAL-FACIAL-DIGITAL SYNDROMEHistopathology: Hamartomatous masses composed of fibrous Dr. Ali Tahir tissue Adepose tissue Skeletal smooth muscle fibers Salivary glands Cartilage
  44. 44. PAPILLON-LEFEVRE SYNDROME Autosomal Recessive Severe destructive periodontal disease affecting the primary Dr. Ali Tahir and permanent dentition Hyperkeratosis of palms of hands and soles of teethEtiology: Immunological disorder Impaired activity of T and B cells Chemotactic defect Reduced ability to eliminate staph. Aureus and candida
  45. 45. PAPILLON-LEFEVRE SYNDROMEFeatures:Normal development and eruption of teeth is Dr. Ali Tahir followed by palmer and plantar keratosis with gingival swelling and bleedingPDL pocket formation precedes the loss of deciduous teeth by the age of 4 yearsGingiva becomes normal untill eruption of permanent teethDestructive PDL disease reappears and permanent teeth are lost by the age of 14 years
  46. 46. Dr. Ali Tahir
  48. 48. BACKGROUND The typical number of chromosomes in human cell is 46 – 22 pairs of autosomes & 1 pair of sex chromosomes X & Y One set of 23 chromosomes is inherited from biological mother (egg) & the other set is inherited from biological father (sperm)
  49. 49. BACKGROUND When an individual is missing a chromosome from a pair  Monosomy e.g. Turner syndrome When an individual has more than two chromosomes of a pair  Trisomy Trisomy 21  Individual has three chromosomes in pair 21 rather than two
  50. 50. SYNDROMESDown’s Syndrome (trisomy 21)Types: Non-Disjunction (95%)47 chromosomes Translocation (5%) Mosaicism (rare)More prevalent after 40yrs of age
  51. 51. DOWN’S SYNDROMEClinical Features: May have eyes that slant upward. Small ears that may fold over at the top. Small mouth, making the tongue appear large. Small nose, with a flattened nasal bridge. Some babies may have short necks, small hands, and short fingers. Adults are often short with unusually limber joints.
  52. 52. ARE THEY DISABLE? Children with Down syndrome can do most things that any young child can do, such as walking, talking, dressing, and trained, but usually develop later than other children. Down syndrome usually results in some degree of mental retardation, the degree of which varies widely. However, many will learn to read and write. Many people with Down syndrome hold supported employment, and frequently live semi- independently
  53. 53. HEALTH PROBLEMS Heart defects occur in 30-50%. Intestinal malformations requiring surgery occur in 10-12%. Visual and hearing impairments occur in > 50%. Thyroid problems, adult onset leukemia, epilepsy, diabetes, and Alzheimers occur more frequently Higher rate of infections due to compromised immune system and decrease in number of T cells.
  54. 54. ORAL HEALTH PROBLEMS Dry mouth caused by mouth breathing associated with upper respiratory infections. Periodontal disease accelerated by increased number of infections. Chronic dry mouth (xerostomia) and fissuring of tongue and lips. Apthous ulcers, oral candida infections, and acute necrotizing ulcerative gingivitis
  55. 55. OROFACIAL FEATURES Underdevelopment or hypoplasia of midfacial region. Smaller bridge of nose, bones of midface, and maxilla. Open bite or class III malocclusion. Tongue may protrude and appear too large.
  56. 56. OROFACIAL FEATURES Sides of the hard palate are abnormally thick, but it gives the appearance that the palate is narrow with a high vault Occasionally palatal cleft-like folds are found Reduced degree of muscle tone in lips and cheeks. Small nasal passage contributes to mouth breathing. Less space in oral cavity for tongue effecting speech, mastication, and natural cleansing of teeth. Force of tongue greater than force of teeth causing class III malocclusion.
  57. 57. DENTAL PROBLEMS Microdentia occurs in 35-55% Hypoplasia and Hypocalcification are common Congenitally missing teeth (partial anodontia) occur in 50% of people with Down syndrome Delay in the eruption of dentition
  58. 58. DOWN’S SYNDROMEFeatures (oral findings) Broad lips Open mouth with protruded tongue Macroglossia Fissured Tongue Fissured Lips Narrow Palate Malocclusion Delayed Eruption of Primary and Permanent teeth Periodontitis NUG Xerostomia
  59. 59. IS THERE A CURE FOR DOWN SYNDROME? No, there is no cure. It cannot be prevented Scientists do not know why problems involving chromosome 21 occur. Down syndrome is not caused by anything either of the parents did or did not do.
  60. 60. WHO HAS AN INCREASED RISK OF HAVING ABABY WITH DOWN SYNDROME? Parent who already had one child with Down syndrome. Mother over 35 years old Triple screening: Detection of AFP (alpha feto- protein), un-conjugated estriol and hCG (human chorionic gonadotropin) in second trimester helps in screening down’s during embryonic life
  61. 61.  Trisomy 21 is present in 95 percent of persons with Down syndrome. Mosaicism, a mixture of normal diploid and trisomy 21 cells, occurs in 2 percent. (Mosaicism is a condition in which cells within the same person have a different genetic makeup) The remaining 3 percent have a Robertsonian translocation in which all or part of an extra chromosome 21 is fused with another chromosome.
  62. 62.  Persons with Down syndrome usually have mild to moderate mental retardation School-aged children with Down syndrome often have difficulty with language, communication Adults with Down syndrome have a high prevalence of early Alzheimers disease
  63. 63. THE RISK OF HAVING A CHILD WITH DOWNSYNDROME 1/1,300 for a 25-year-old woman; at age 35, the risk increases to 1/365 At age 45, the risk of a having a child with Down syndrome increases to 1/30
  64. 64. THANK YOU