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
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
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
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
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
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
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
BECKWITH WIEDEMANN SYNDROME Omphalocele Visceromegaly Dr. Ali Tahir Gigantism Neonatal hypoglycemia Increased susceptibility to visceral tumours
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
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)
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
Histopathology Mild to moderate Dr. Ali Tahir Hyperparakeratosis Acanthosis Intracellular edema of spinous cell layer
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
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
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
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
CLINICAL FEATURES Premature development & eruption of teeth which may be enlarged in size Dr. Ali Tahir Unilateral macroglossia MalocclusionD.DNeurofibromatosisFibrous dysplasia
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
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
CLINICAL FEATURES Mouth & nose deviated towards the affected Dr. Ali Tahir side Unilateral posterior open bite Delayed eruption
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
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
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
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
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
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
TREACHER COLLINS SYNDROME(MANDIBULOFACIAL DYSOSTOSIS) Abnormal development of Dr. Ali Tahir structures from first and second pharyngeal arches Autosomal dominant
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
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
ORAL-FACIAL-DIGITAL SYNDROMEHistopathology: Hamartomatous masses composed of fibrous Dr. Ali Tahir tissue Adepose tissue Skeletal smooth muscle fibers Salivary glands Cartilage
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
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
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)
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
SYNDROMESDown’s Syndrome (trisomy 21)Types: Non-Disjunction (95%)47 chromosomes Translocation (5%) Mosaicism (rare)More prevalent after 40yrs of age
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.
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
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.
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
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.
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.
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
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
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.
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
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.
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
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