Dental Anomalies and Genetic Counseling Flashcards
(32 cards)
Four main sub-specialties of genetic counseling and common referral reason
Prenatal, Pediatrics, Adult, Cancer
Prenatal
advanced maternal age (>35y at delivery), abnormal maternal serum screen or cfDNA screen, ancestry-based or pan-ethnic carrier screening, ultrasound anomalies, family/personal history of genetic disorder, teratogen exposure, recurrent pregnancy loss
Pediatrics
developmental delay, intellectual disability, autism, dysmorphic features, birth defects
Adult
symptoms or family history of an adult-onset disorder, carrier/pre-conception counseling
Cancer
possible family with predisposition to cancer, early-onset cancer (<50y), multiple primary cancers, bilateral cancer diagnoses, multiple individuals in multiple generations with related cancer in the family
genetic counseling session includes…
- Contracting
- history intake (developmental, pregnancy, medical, and family history)
- physical exam (if needed)
- information/education on diagnosis (or potential diagnosis)
- risk assessment
- psychosocial counseling
- care coordination/follow-up/resources
Inheritance patterns
- Autosomal dominant
- Autosomal recessive
- X-linked
Autosomal dominant
Affected individuals in every generation; equal male-to-female ratio
Autosomal recessive
Often only 1 generation in the family history, unaffected parents have affected children
X-linked
No male-to-male transmission; carrier females have affected sons and no affected daughters
Cleft Lip and/or Palate (CL/P)- causes
genetics, environment, prenatal exposures (ie. teratogens), pregnancy complications (amniotic band syndrome), or a combination (multifactorial)
Cleft Lip and/or Palate (CL/P)- facts
• 10-15% have an identifiable cause
o 10% risk chromosome abnormality
Associated with 400+ genetic syndromes: van der Woude syndrome, 22q deletion syndrome, Gorlin syndrome
Cleft Lip and/or Palate (CL/P)- 22q deletion syndrome (associated syndrome)
o Most common palate anomaly: velopharyngeal incompetence/insufficiency
o Other features: Conotruncal heart anomalies (ex. tetralogy of Fallot), learning disabilities, immune problems, hypocalcemia
Cleft Lip and/or Palate (CL/P)- Van der Woude syndrome (associated syndrome)
o Other most common finding: Lip pits
o Autosomal dominant with variable expressivity
Oral-facial-digital syndrome (OFD)
-At least 13 different forms o Type 1 (most common) -> X-linked dominant / lethal in males; others are recessive -Oral features: o Abnormal tongue (cleft, lobed-shape, and/or w/ noncancerous tumors or nodules) o Extra, missing, or defective teeth. o Cleft palate o Hyperplastic frenula -Other facial and/or digital findings
Hypohidrotic Ectodermal Dysplasia:
3 cardinal features
- hypohidrosis (decreased sweating ability)
- hypotrichosis (sparse hair)
- hypodontia (congenital absence of teeth)-> average of 9 teeth develop (canines & first molars); teeth that erupt are smaller and have conical crowns; dental radiographs can determine extent of hypodontia
Hypohidrotic Ectodermal Dysplasia: inheritance pattern
~95% (majority) cases are X-linked
Hypohidrotic Ectodermal Dysplasia: Dental treatment
simple restoration, dentures, dental implants, orthodontics if needed
Osteogenesis Imperfecta (OI):
•Spectrum of disorders characterized by
- bone fractures
- bone deformities
- dentinogenesis imperfect (DI)
- blue sclera
- hearing loss
- 7 different types w/ varying severity
DI
- blue-grey or yellow-brown teeth that may appear translucent
- wear down and break easily
- X-rays reveal bulbous crowns, narrow roots, and small/obliterated root canals
DI treatment
dentition and functional bite maintenance, early dental restorative coverage of primary molars, plastic polymers to coat teeth, orthodontic treatment w/ care not to fracture teeth
OI inheritance pattern
usually autosomal dominant
Craniofacial Microsomia
- Spectrum of malformations of structures derived from 1st and 2nd branchial arches
- cause is largely unknown (environmental, heritable, combination of the two)
Craniofacial Microsomia -Facial Asymmetry
caused by
- maxillary and/or mandibular hypoplasia
- macrostomia
- lateral oral cleating
- preauricular/facial tags
- ear malformations
- hearing loss
- CL/P
