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syndromes and dental manifestations
most common or dentally relevant in pediatric dentistry
Terms in this set (66)
Albright's Hereditary Osteodystrophy
Inadequate H+ clearance leads to low Ca, high P
MR, short stature, brachydactyly
dental: ectopic & intrapulpal calcifications, blunted roots, small crowns, irregular dentin tubules, delayed primary exfoliation and permanent eruption
Features same as Crouzons: premature closure of cranial sutures, ocular hypertelorism, parrot nose, maxillary hypoplasia, V-shaped palate, hypodontia
Unique Features: syndactyly (esp fused fingers), often MR, not usu hereditary, 30% - cleft of soft palate, delayed/ectopic eruption, shovel-shaped incisors
Most common neurobehavioral disorder in kids, usu presents by 7yo, 9%male, 3%female
Etiology: genetic, small brain, nt defects, environ toxins, head injury, CA
Subtypes: inattentive, hyperactive, combined.
Often have low self-esteen and increased aggression
Dx: specific criteria of beh sx & fcnal in >= 2 environ
Tx: Stimulants (methylphenidate, dextroamphetamine) strattera, clonidine. Also behavioral, home & classroom to increase + beh & decrease - beh, time out, response-cost, token economy
F/u: with MD if 3-6 target goals met
ADHD & dental
know pt's dx and tx plan. Discuss beh guidance plan.
Immediate + reinforcement, short appts, avoid tx when pt off meds.
Stimulants may cause xerostomia: inc. caries
Poor OH so focus on prevention
Inc. risk for dental trauma (poor coord & impulsive) & bruxism
If sedating: meperidine(demerol) is contraindicated if pt is on dextro-amphetamine
Autism - define
Abnl brain dev from early infancy (10-15% have large brain)
Early signs: not respond to name, acts deaf, doesn't smile socially, doesn't point/gesture by 1yo, doesn't babble, talks but no social/commun. skills
Profound withdrawl. Intelligent, pensive physiognomy.
Skillful relation to inanimate objects
Obsessive desire for preservation of sameness
Language dev. not understandable
Often self-abusive, self-stimulating
Autism Spectrum (ASD)
AUTISM: severe language prob, lack of interest in others, repetitive beh & irrational routines, resistance to change
ASPERGER: relatively strong verbal skills, trouble w/ social situations & sharing enjoyment, obsessive interests.
PDD: Pervasive Developmental Disorder: "atypical autism." Less severe social impairments
CDD: Childhood Disintegrative Disorder: nl growth & dev for 2-4 yrs. Then autism-like sx develop
RETT DISORDER: like CDD but earlier and only in girls
autism & dental
Risks for uncoop beh: <4yo, can't read, not toilet-trained, concurrent med dx, no expressive language.
Desensitization: start w/ least anxiety-producing.
Sedation: knowing psychotropic agents may have unusual side effects.
Meds: all cause xerostomia
SPECIFICS: short&simple sentences, music as aid, parents to help communicate, move pts limbs when showing how to brush, familiar environ w/ same people/room, ask parent to rehearse at home, short/repetitive visits, no sound distractions, end on + note w/ procedure pt can coop for.
Form of vasculitis. Chronic disorder of immune sys (exaggerated inflam).
dental: oral aphthae (plus genital & ocular lesions)
Non-progressive malformation of motor centers & pathways of brain.
Assoc: 60% MR, 40% seizures, 35% sensory deficits, speech disorders, hearing loss, beh problems.
Sx: paralysis, weakness, incoordination/dysfcn of motor fcn.
Dx: posturing/abnl mvmt, oropharyngeal prob, strabismus, high/low msl tone, evolutional/primitive responses, inc deep tendon reflexes.
Hemiparesis (asymm CNS damage, poor balance, scoliosis)
Spastic (stiff msls, contractures, lack of control)
Dyskinetic/athetoid (slow, writihing invol mvmt, hypotonic)
Ataxic (tremors & uncoord voluntary mvmt)
CP & dental
Oral: perio dz, caries, maloccl (inc. OJ), bruxism, erosion, trauma, gag reflex, dysphagia, drooling, mouth breathing, hyperactive bite reflex
Note: tx drooling: botox in submand gland or scoplamine - transdermal.
Dental Care: calm, supportive environ, relax to dec. msl mvmt, consider tx in wheelchair & support for limbs, use MP or finger splints, use RD for restorative, short appt, freq breaks, keep back slightly elevated, forewarn of stimuli, often need premed or GA if extensive tx
Note: may have G-tube, GERD, sucrose in meds. Consider CHX to improve gingival health
Rare AR disorder leading to dec. phagocytosis.
PMNs w/ giant cytoplasmic granules.
Recurrent pyogenic infxns, oculocutaneous albinism, photophobia, nystagmus, peripheral neuropathy.
Dent: premature exfol of primary teeth, severe gingivitis & periodontitis.
Rare genetic disorder with skeletal dysplasia. Bilateral polydactyly, 50% cardiac defects, dwarfism.
Dent: absent maxillary sulcus, 25% premature teeth, partial anodontia, microdontia, conical crowns, enamel hypoplasia, delayed primary exfol & perm eruption.
Genetic disorder of intramembranous bone formation. Brachycephalic, frontal + parietal bossing, depressed nasal bridge, delayed closure of sutures, clavicular defect.
Dent: supernum teeth, delayed exfol of primary teeth & eruption of perm, mid-face hypoplasia, arched palate often w/ submucous or complete cleft, deficient cellular cementum
AKA "Craniofacial dysostosis"
Features same as Apert: premature closure of cranial sutures, ocular hypertelorism, parrot nose, maxillary hypoplasia, V-shaped palate, hypodontia
Unique features: exophthalmos, poss. hyperplasia, micro/macrodontia.
More common than Apert, inc. variability, less severe.
Rare idiopathic hematological disorder.
Very low PMN count for 3-6 days w/ inc. monocytes/eosinophils. Usu 21-day cycle
Dent: Premature exfol of primary teeth, oral mucosal ulcers
Abnl CFTR protein (dec. Cl secretion, inc. Na absorption)
AR. More in whites, 50% die by 30yo.
Exocrine glands produce inc. mucous
Glands most affected: lungs, intestine, reproductive epith)
DX: genetic (pre or postnatal, by 3yo), sweat Cl test
SX: salty skin, no wt gain, abnl bowel mvmt, recurrent wheeze/cough, recurrent pneumonia, nasal polyps, clubbing
ORAL: inc in enamel defects, calculus & saliva pH. Less caries. Gingivitis, mouth breather, intrinsic stains (dz, tetracycline).
TX: chest physio tx 1-3/d. Exercise. Aerosols. Oral abx.
DIGESTION: pancreatic enzymes blocked, not absorb fat/protein. Need enzyme supp, fat-sol vitADEK, iron, & lots of calories.
0.1% 3-10yo have mod-profound HL in both ears.
90% are sensorineural HL. In older kids.
1. Prenatal: genetic, viral infxn, ototoxic med (aspirin)
2. Perinatal: toxemia in preg, premie, birth injury, anoxia
3. Postnatal: infxns, injuries, ototoxic meds, v. loud noise
Hearing Loss and Dental
Face pt & speak slowly in nl tone. Use head/eye mvmt. Pts often have high intelligence.
TSFD: tell, show, feel, do.
Consider adj/removing hearing aids before high speed
note: hypernasality is a fcn of deafness
Forms = continuum based on severity, pervasiveness, mania.
1. Adjustment d/o w/ Depressed Mood: mild, self-limiting.
2. Depression NOS (minor): bad mood, 3sx of major dep
3. Dysthymic d/o - chronic: less sx than major. >1yr.
4. Major Depression: severe. sad/irritable + 5sx of major
Comorbidity: anxiety, ADHD, alcohol/drugs/tobacco, conduct d/o.
Risks: anxiety, - self view, family discord, neglect, family hx
Tx: antidep, cognitive beh tx, interpersonal tx, electroconvul.
Physical: hypotonia, varying MR, inc. heart defects, inc. hypothyroidism, inc. ALL.
PERIO DZ: in 60-100% <30yo. 35% in baby teeth. Mand incisors often affected. Etiology: capillary fragility - poor vascularization of G tissues; PMN chemotaxic defect; Tcell maturation defect due to abnl thymus.
DENT: supernum, microdontia, hypodontia, macroglossia, fissured tongue, taurodonts, cl III tend, inc. caries, delayed eruption, enamel hypoplasia.
Sed/GA: consider 1) atlanto-axial instability, 2) dec. HR, 3) airway challenges
90% female. Onset in teens. Gives pt sense of control.
Risks: strict family, family hx, depression, stress, life change.
ANOREXIA NERVOSA: more heritable, intense fear of weight gain, body image distortion, 40% recover completely, 40% partially recover, 20% ongoing
BULIMIA NERVOSA: 1-4% pop. Purging vs non-purging. At least 2/wk for 3mo. 50% recover completely, 35% partial, 15% ongoing
ORAL w/ Bulimia: enamel erosion, no sensitivity, uni/bilateral parotid gland enlargement in 15%
Group of syndromes: abnl ectodermal structures.
Periocular pigmentation, midface hypoplasia.
DENTAL: hypodontia --> anodontia. Microdontia.
Conical crowns, taurodontism, deficient alveolar ridge
Procollagen defect. Gorlin sign (touch nose w/ tongue).
Most are AD. Hyperplastic, fragile skin + mucosa. Skin hemorrhages & scars. Joint hypermobility
DENTAL: abnl dentin apposition & intrapulpal calcifications (like Albright's). Perio dz, delayed healing
Hereditary vesiculobullous dz of skin & mucous mem.
EB SIMPLEX: most common. AD, skin involvement from occasional blisters of hands/feet to life-threatening. Onset at birth.
JUNCTIONAL EB: AR. Ranges from mild to life-threatening. May have generalized enamel hypoplasia.
DYSTROPHIC EB: Dominant (gen blisters, birth onset, dystrophic/absent nails, maybe oral, nl lifespan) vs. Recessive (may have excessive blistering, scarring (mitten hand), maybe oral).
Skin condition & common disorder, esp 10-30yo.
? Etiology: Allergic type IV: deposition of immune complex in the superficial microvasculature of skin & oral mucous mem. that usu follows an infxn (HSV) or drug exposure.
Sx: red macules, papules, bullae & erosions on skin/mucosa. "target lesions." May have ocular & genital involvement (ie Stevens-Johnson Synd = EM major)
Benign fibro-osseous lesion of jaw causes expansion & weakening. 80% monostotic form. Gene mutation.
Begins early in life w/ gradual painless enlargement. Stable in adulthood. More in maxilla than mad.
DENTAL: premature exfol of primary, may obliterate mucobuccal fold. Teeth firm but displaced.
X-ray: ground glass
McCune-Albright = polyostotic fibrous dysplasia + cafe au lait + endocrinopathies (sexual precocity, pituitary adenoma, hyperthyroidism)
Malfcning/weak LES; hiatal hernia. 5-7% pop.
SX: chronic heartburn, acid regurg, belching, painful swallowing, chronic sore throat, laryngitis, sour taste.
UN-TX: esoph scars, malig, apnea, chronic cough, asthma, recurrent pneumonia.
DX: hx, 2wk med trial, pH monitor of esoph, barium swallow.
TX: lifestyle mod (upright & no exercise after meal, dec. portion, wt loss), avoid aggravating foods (caffeine, chocolate, mints, spicy, acidic, fried, alcohol), meds (antacids, foaming agents, protein pump inhibitors, prokinetics), surgery (fundoplication (90% cure), electrosurgery)
GERD and Dental
Difficult/painful swallowing, G inflam, inc. salivary micro-org (inc. caries)
Enamel erosion: max palatal 1st.
Note: have pt eval for GERD when dental erosion present in asx kid
Langerhans Cell Histiocytosis
Excessive # tissue macrophages. Usu <10yo.
DENT: 10-30% oral involvement. Bone lesions: floating teeth. G swelling/necrosis. Furcation bone loss. Premature exfol of primary teeth.
1. Unifocal LH (Eosinophilic Granuloma): acute localized (bone only), older kids, most benign.
2. Multifocal Unisystem (Hand-Schuller-Christian Dz): chronic disseminated, >3yo, skull lesions, diapetes ins, exophthalmos
3. Multifocal Multisystem (Letterer-Siwe Dz): acute disseminated, infants, most severe
Prototype of mucopolysaccharidosis. AR.
FEATURES: Coarse facies, large head, premature closure of sutures (scaphocephaly), inc. dwarfism, depressed nasal bridge, enlarged lips, open mouth & protruding tongue after 5yp.
COURSE: progressive MR, death ~10yo from obstructive airway dz, resp infxns, or heart complications.
DENT: widely spaced teeth; localized areas of bone destruction.
excess CSF in brain's ventricles. Congenital or acquired.
Imbalance in production/absorption of CSF.
CAUSE: genetic inher, dev d/o (ie spina bifida), head trauma, meningitis, tumors.
SX: rapid inc head size, down-cast eyes, vomiting, seizures, sleepiness, irritability, blurred vision, can't balance.
TX: shunt to drain. VP=ventriculo-peritoneal (to abdomen).
VA=ventriculo-atrial (to RA of heart).
COMPL: infxn, mechanical failure, obstructions
excess GH. Leads to gigantism (kids) & acromegaly (adults).
FEATURES: frontal bossing, large nose & lips.
DENT: prognathism, malocclusion, inc teeth spacing, macroglossia, tempromandibular arthritis, macrodontia
Caution w/ sedation since 50% have sleep apnea
Decreased GH. Dwarfism. Well-proportioned body.
Fine, silky hair, wrinkled atrophic skin. Hypogonadism.
DENT: hypodontia, delayed primary exfol & perm eruption, malocclusion due to small mandible.
Inc. osteoclasts --> osteoporosis.
Hypercalcemia --> kidney stones.
DENT: generalized loss of lamina dura, "ground glass," "brown tumors" like CGCG.
Decreased PTH. Hypocalcemia.
SX: tingling lips fingers toes, msl cramps, pain in face legs feet abdomen, dry hair, brittle nails, dry scaly skin.
DENT: affects permanent >> primary.
Delayed eruption. Short, wedge-shaped roots w/ delayed apical closure, enamel hypoplasia & attrition, abnl dentin apposition.
Excess TH (inc. T3, T4 & dec. TSH). Hypermetabolic state.
Most common form = Grave's dz.
SX: inc HR, can't tolerate hot, nervous, jittery, irritable, wt loss, tremors, sweating.
Thyrotoxic crisis: restless, n/v, fever, sweating, inc HR & arrythmia, pulmonary edema, CHF. Then stupor, coma, dec. BP, death.
Complications: osteoporosis, a-fib, htn, CHF.
Hyperthyroidism & Dental
Oral Findings: osteoporosis of alveolar bone; rapid inc in caries, perio dz & teeth/jaw dev.; premature loss of primary, early eruption of perm, damaged salivary glands (from iodine)
Dental Tx: decrease stress.
If poor control: avoid surgery, tx acute infxn, no epi, thyroid storm?
Medical crisis: 911, wet/ice packs, 100-300mg hydrocortisone, IV glucose.
Decreased T3 & calcitonin. Cretinism (infancy), myxedema (adult). Dec. metabolism. Slowed physical & mental activity (may irreversibly damage young infants).
SX: cold intolerance, dry skin/hair, dec. sweat, lethargy, depression, generalized edema, wt gain. Assoc: anemia.
Myxedema Coma sx: hypotherm, dec. HR & BP, seizures.
DENT: delayed skeletal dev, primary exfol, & perm eruption. Malocclusion, gingival edema, enlarged tongue, thick lips.
Dental Tx: sensitivity to stres, infxn, surgery, & some sedatives/opioids.
Alkaline Phosphatase: absent or defective.
AR, 4 severity levels, phenotypes range from premature loss of primary to severe bone abnl. In mild forms, early loss of primary may be 1st clinical sx, usu lower incisors. Also abnormal & dec. cementum, possible large pulp chambers.
DX: bone x-ray, dec. serum AP, inc. phosphoethanolamine in urine.
Leukemia & Dental
Premature exfoliation of primary
G enlargement (due to infiltration w/ leukemic cells):
G hyperplastic, edematous, blue-red. May be 1st sx (esp in AML - also see thinning of lamina dura & PDL destruction)
Petechiae or mucosal ulceration may be present w/ any form of leukemia
Leukocyte Adhesion Deficiency - LAD
Rare AR immunodeficiency resulting in recurrent infxns.
Leukocyte surface glycoprotein defect: poor adherence.
Frequent respiratory, skin, ear & other ST bacterial infxns.
Tx w/ bone marrow transplant.
ORAL: severe generalized perio dz in primary & young perm dentition Refractory to tx.
TX: rigorous OH, abx, ext affected teeth
Group of familial d/o: degeneration of msl fibers.
Mutations in genes encoding proteins of nuclear envelope.
9 types: based on age of onset, inherit, rate, distribution.
DUCHENNE (pseudohypertrophic): most common neuromuscular dz of childhood. X-linked recessive (in males). 25% MR. Onset 2-6yo, can't walk by 12yo, die <30yo (resp or heart compl).
Other types: becker, emery-dreifuss, distal, myotonic...etc
Muscular Dystrophy & Dental
ORAL: plaque, gingivitis, poor OH, trauma
DENT: MP helps w/ msl weakness during tx. May transfer to dental chair & postural support. May have deficits in protective airway reflexes & poor control of fluids & debris in airway.
Do not supine (don't lay horizontal). Use RD. Short appts
Neurofibromatosis Type I
von Recklinghausen Disease. (90% of NF cases). AD
Dx: 2/7 criteria: 1) >5 cafe au lait 2) >1 neurofibroma 3) axillary or inguinal freckling 4) optic glioma 5) >1 lisch nodule 6) osseous lesion 7) 1st-degree relative with NF-I
ORAL: enlargement of fungiform papillae in 50%. Intraoral neurofibromas in 25%.
X-RAY: enlarged mandibular foramen/canal, inc bone density..
Less circulating PMNs.
Forms: cyclic neutropenia (every 20 days, penia lasts 5 days), chronic benign neu. of childhood, chronic idiopathic neu, familial benign neu.
Hx of other recurrent ST infxns
PERIO: severe gingivitis w/ ulcerations, AL & BL, early loss of primary teeth, severe perio dz in perm
Dx: WBC differential count
Tx: vigorous OH, abx, ext affected teeth
OSAS - Obstructive Sleep Apnea Syndrome
D/o of breathing during sleep: prolonged partial upper airway obstruction that disrupts nl ventilation during sleep.
Note: benign snoring in 10% kids, no obst apnea or freq wake.
SX: nightly snoring, disturbed sleep, daytime neurobeh prob
RISKS: adenotonsillar hypertrophy, obesity, craniofacial abnl, neuromuscular d/o, short mand, inc in black/hispanic.
COMPL: dec learning, beh prob, htn, corpulmonale, death rare
TX: surgical (adenotonsillectomy, uvulopalatoplasty) or non-sx (tx allergiew, wt loss, CPAP)
DENT: beh? sedation risk, mouth-breathing, malocclusion
90% AD (AR lethal)
Disorder of intermem & endochondral bone formation
FEATURES: blue sclera, brittle bones, impaired hearing, DI, loose ligaments, inc. dwarfism
DENT: DI, delayed exfol of primary & eruption of perm
AR. Deficiency of cathepsin C.
Features: periodontitis & palmoplantar hyperkeratosis (by <3yo)
Premature loss of primary (4yo) & perm (14yo) teeth due to AL & BL. Inflam can be severe & may have Aa infxn
TX: rigorous OH, abx, ext affected teeth
Hereditary Intestinal Polyposis Syndrome. AD.
Benign polyposis of sm intest (3% --> malignant)
DDx: uncommon dx for pigmentation
DENT: melanin hyperpigmentation of lips.
Buccal lesions less likely to fade than lip lesions
Pierre Robin Syndrome
Micrognathia, Glossoptosis, Cleft palate
20% have heart dz.
Mandibular growth usu progresses normally
Often seen in Stickler Synd, Velocardiofacial Synd, Fetal Alcohol Synd, Treacher Collins Synd
Spont uncontrollable excessive discharge of cerebral neurons causes suspension of motor, sensory, beh, or body fcns.
Epilepsy if >2 recurrent seizures (when unknown etiology).
If <2yo: usu caused by high fever
4% of all kids have a seizure by 15yo, 0.5% recurrent
1) Partial/Focal: simple(no LOC) or complex (1-2m LOC)
2) Generalized (LOC): convulsive or nonconvulsive
3) Status Epilepticus: if >5min, emerg
From localized area of brain.
SIMPLE: no LOC.
motor, autonomic, sensory, psychic symptoms
localized twitching/numbness, smack lips, light flashes
COMPLEX: LOC for 1-2min, may have aura
motor, autonomic, sensory, psychic symptoms
localized twitching/numbness, extreme fear, visual disturb.
confusion continues 1-2min post-ictal
Involves entire brain. All have LOC.
TONIC-CLONIC: ie grand-mal. 10-20s rigidity then 2-5min contractions. Most common, all extremities, aura, post-ictal atonia & incontinence. 3hr till full recovery.
ABSENCE: ie petite mal. LOC 10-30sec, brief eye/msl fluttering, onset 4-10yo
ATONIC: brief loss of msl tone. Many injuries from falls
MYOCLONIC, CLONIC, TONIC
Seizure Meds & Dental
MEDICAL: 1) anticonvulsants. Phenytoin (dilantin), Carbamazepine (tegretol), Gabapentin (neurontin), Valproic acid (depakote), Topimate (topimax), Lamotrigine (lamictal), oxcarbazepine (trileptal), phenobarbital.
2) ketogenic diet (no carbs, lots fat) 3)surgery 4)altern meds
ORAL EVAL: 1) check meds for side effects/interaction of G hyperplasia, G bleeding, xerostomia. 2) GA if poor seizure control. 3) agressive OH. 4) Pt well-rested, anxiety management. 5) Lidocaine dec. seizure threshold. 6) Prone to anterior trauma
1) note time it begins
2) stay calm, clear area
3) Position to prevent injury: chair reclined & fully down, nothing in mouth.
4) Postictal airway support: rolled towel under shoulders, suction airway, vitals & supp O2 prn.
5) Activate EMS if >5min
AR type of Sickle-Cell Dz. Homozygous for HbS. "HbSS"
SICKLING: under low O2 --> rapid destruction of sickled RBCs, stagnation (thrombus, infarct), collection of RBCs in vital organs.
Painful crises (dehydration, infxn, hypoxia), may have had splenectomy, may need abx for dental tx.
DENT: max/mand enlargement. Don't use Prilocaine (metHg)
X-RAY: step-ladder trabeculation, hair on end
Neural Tube Defects
Occur btwn 3-4wks in-utero.
Causes: folic acid deficiency, maternal diabetes/obesity/ epileptic meds.
1) Anencephaly: no brrain, dies
2) Encephalocele: not completely closed. Groove in upper skull. Sx: hydrocephalus, spastic quadriplegia, microcephaly, ataxia.
3) Spina Bifida: 3 types
a) SB occulta - most common, most mild
b) Meningocele - least common
c) Myelomeningocele - most severe
1) SB OCCULTA: most common, most mild. Outer part of some vertebrae not formed. Spinal cord (SC) intact, no long-term effects.
2) MENINGOCELE: least common. Meninges (membranes, not the SC) pushed thru vertebrae. Usu no nerve damage. Few/no long-term side effects.
3) MYELOMENINGOCELE: most severe. Meninges & sac (w/CSF & SC) protrudes thru vert. cleft. Sx: paralysis, incontinence, hydrocephalus in 90%.
Often assoc w/ Arnold-Chiari II malformation (part of cerebellum protrudes thru foramen magnum into SC). Sx (teen/adults): headache, dizzy, diplopia, discomfort/choking on reclining)
Spina Bifida & Dental
Pt may have anxiety due to many medical interventions
Some have mental disabilities, some teens have depression.
Abx Prophylaxis: only for hydrocephalus w/ VA (atrial) or VV (venous) shunt
Arnold-chiari II pt: tx more upright
LATEX ALLERGY PRECAUTIONS
life-threatening skin condition. Cell death --> epidermis & dermis separate.
Prob a hypersensitivity complex
Etiology: most idiopathic. known: meds, infxns
Similar to erythema multiforme; often AKA: "EM major" since it's EM (oral/skin) plus ocular/genital involvement
Rare neurological & skin disorder.
Characterized by prolif of brain arteries.
Assoc w/ port-wine stains of face (w/ ipsilateral calcifications of cerebral cortex)
Also: MR, seizures, hemiplegia, ocular defects, telangiectasias.
DENT: overgrowth of bony maxilla, supernumeraries
Systemic Lupus Erythematous (SLE)
Chronic multisystem progressive disorder.
Immunologically mediated involving CT.
Fever & arthralgias.
20% oral involvement (ulcers & erosive lip lesions)
AR. Genetic defect w/ reduced rate or no synthesis of one of the globin (usu beta) chains that make up hemoglobin.
Quantity problem (too few nl Hb). Persistent fetal Hb
Sx: severe hypochromic, microcytic anemia.
Homozygous = najor. Hetero = minor.
DENT: max/mand enlargement
X-RAY: hair on end
Treacher Collins Syndrome
AKA Mandibulafacial Dysostosis
Features: downsloping palpebral fissues, depressed cheekbones, deformed ear, receding chin, large fish-like mouth
Hypoplastic mandible. 30% cleft palate.
0.1%. Older kids. 2/3 have another disability.
CAUSE: 1)Prenatal: retinopathy of prematurity, albinism, hydrocephalus, cataracts, rubella. 2)Postnatal: trauma, htn, hemorrhagic disorder, diabetes, glaucoma
DENT: developmental issues. Must explain more by touch/hearing. Reinforce by smell/taste. Describe office/personell. Ask re: photosensitivity. Tell pt if someone enters/leaves. Inc. trauma.
White Sponge Nevus
Rare. AD. Keratin mutation.
Defective keratinization of oral mucosa.
SX: usu at birth/kid. Some as teen.
Symm thickened white diffuse plaques on buccal mucosa (also tongue, labial mucosa, soft palate, FOM). Usu asx & disappears w/ stretching.
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