Down Syndrome Flashcards
Percent of DS w/ trisomy 21
A prox 95%
Mean maternal age for DS
32
Risk of recurrence up to age 40 w/ trisomy 21
1%
Prenatal DS dx
Screening tests
Diagnosistics: chorionic villus, amniocentesis
DS dx at birth
Presence of typical characteristics
Chromosomal analysis of blood
DS craniofacial phenotypic characteristics
Inner epicanthic folds Upward slanting of palpebral fissures Flat facial profile Late frontal closure Anomalous ears Low nasal bridge Shortened palate Maxillary and dental hypoplasia Irregular tooth placement
Musculoskeletal/ CT phenotypic characteristics
Diastisis recti
Hypoplasia of middle phalanx
Joint hypermobility
Hypoplasia pelvis w shallow acetabulum angles
AA instability (risk of cord compression)
Wide gap b/n toes 1 and 2
Single palmar crease
Eye/vision in DS
Iris speckling Myopia Nystagmus Strabismus Tear duct blockage
Ears/hearing in DS
Conductive hearing loss (80%)
Sensorineural or mixed hearing loss
CV in DS
VSD PDA Tetralogy of fallout -pulm valve stenosis -VSD -malposotion of aorta -R vent hypertrophy
GI in DS
Duodenal stenosis
Imperforate anus
Hirschsprung’s disease
Immunologic DS
Leukemia
Chronic rhinitis and conjunctivitis
Fluid in middle ear (vestibular system)
Neuro in DS
Mild microcephalic Hypotonia Intellectual disability Developmental delay Early onset Alzheimer’s Small cerebellum and brain stem
BS and Alzheimer’s
25% have Alz by age 35
DS gait patterns
Small step length Increased knee flexion at contact Hyperextension in stance Decreased single limb support Increased hip flexion posture
