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28 Cards in this Set
- Front
- Back
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Malformation |
Errors in formation of organs, body wall structures Typically between the 3rd and 8th week of development |
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Disruptions |
Morphological alteration of already formed structures Typically caused by destructive processes e.g. vascular accidents, amniotic bands |
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Deformations |
Result from mechanical forces that mold fetal tissue a prolonged period of time Enlarged fetus @ improper angle; amniotic dehydration |
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Syndrome |
Group of anomalies occurring together and having a specific identified common cause e.g. chromosomal deletions involve deletion of predictable gene clusters Involves diagnosis being made |
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Associations |
Non-random appearance of 2 or more anomalies without identifiable cause occur together in greater frequency than can be attributed to random chance |
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Idiopathic |
Specific cause of defect unknown Make up to 40% of identified birth defects |
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Aneuploidy |
Result of non-disjunction of sister chromatids during cell division Leads to monosomy and trisomy |
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Down Syndrome (Prevalence and Pathophysiology) |
Trisomy 21 Most common chromsomal disorder in humans Pathophysiology: Non-disjunction of chromosome 21 Full trisomy-94% of cases Mosaicism- 2.4% of cases Translocation of chromosome 21- 3.3% |
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Down Syndrome Presentation |
Intellectual disability Dysmorphic hands and face Congenital heart defects- ventricular septal and atrioventricular canal defects Predisposition to obesity and diabetes Musculoskeletal anomalies -short stature, alanto-occipital hypermobility cevical spine anomalies |
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Trisomy 21 |
Down Syndrome |
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Down Syndrome Prognosis |
75% prenatal mortality rate 20-30% mortality in 1st year Focus on preservation of activity, cognitive function, independence, development of ADL, career skills Respiratory therapy, physical and recreational therapy Care taken to avoid axial loads through cervical region Cervical instability--> neuropathy through brachial plexus (Erb-Duchenne) |
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Trisomy 18 |
Edward's Syndrome |
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Edward's Syndrome Trisomy 18 |
Pathophysiology: Non-disjunction on 18th chromosome primarily seen in anaphase 2 90% pure 5% mosaic 2% translocation |
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Edward's Syndrome Presentation |
Phenotype Varies Psychomotor and growth retardation Intellectual disabilities Microcephaly, Micrognatia, micropthalmia, micrognatia, clenched fingers Cardiac Abnormalities-ventricular septal defects with semilunar valve defects; transposition of great arteries, tetralogy of fallot |
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Edward's Syndrome Prognosis |
95% mortality rate severe disability and dependence Treatment Considerations: principle concerns are cardiac complications, feeding, and sepsis OT/PT therapy fairly limited |
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Trisomy 13 |
Patau Syndrome |
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Patau Syndrome Trisomy 13 |
1 in 8-12,000 births Pathophysiology: Due to non-disjunction of chromosome 13 Presentation: Highly variable Mental disability in all cases may present with: holoprosencephaly (Fusion of brain hemispheres), facial clefts, neural tube defects, cardiac abnormalities Prognosis: Very high mortality~95% |
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Turner Syndrome |
XO Monosomy |
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Turner Syndrome XO monosomy |
Single copy of X chromosome with no second sex chromosome 1 in 2000 births 99% miscarriage due to potential cardiac abnormalities Pathophysiology: non-disjunction of sex chromosomes specific to a set of genes on the short arm of chromosome X 2/3rds of cases traced back to paternal origin |
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Turner Syndrome Presentation |
Distinct Dysmorphia -short stature, webbed neck, cubitus valgus, shield chest Incomplete development of secondary sex characteristics--> incomplete breast and reproductive, amenorrhea, infertility Associated with scoliosis and cardiovascular abnormalities |
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Turner Syndrome Treatment |
Concerns related to chronic diseases -cardiovascular complications Growth hormone therapy in childhood Sex hormone replacement therapy at puberty Dietary control to prevent obesity Physical activity to avoid excessive weigh gain |
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Klinefelter Syndrome |
XXY, XXXY, XXXXY |
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Klinefelter Syndrome XXY |
Trisomy of Sex chromosomes 1 in 500/1000 live births 60% prenatal mortality rate |
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Klinefelter Syndrome XXY Pathophysiology |
Pathophysiology: Due to non-disjunction of the x-chromosome during cell division -results in phenotypic male, presence of SRY gene Presentation: Feminization of male reproductive organs, elevated gonadotropin, FSH, LH, and estrogen levels -Gynacomastia, Deficient facial/body hair, Hypogonadism, Infertility Slightly diminished mental intellect Increased risk of diabetes, osteoporosis, breast/testicular cancers |
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Klinefelter Syndrome Treatment |
Normally diagnosed at puberty Androgen therapy at onset of puberty to promote secondary sex development Physical therapy- in cases of hypotonia, delayed motor skills OT- motor dyspraxia |
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XYY Syndrome |
Superman Syndrome |
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Superman Syndrome XYY |
Characterized by 2 Y chromosomes Pathophysiology: non-disjunction of the Y chromosomes in the male gamete Presentation: Most don't know they have it Accelerated growth, generally tall Misconception of violent individuals |
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Sickle Cell Anemia |
Pathophysiology: Substitution of single amino acid on beta chain of hemoglobin valine switched in for glutamate causes coagulation of proteins Prognosis: most common cause of death is infection, stroke, kidney, heart, or liver failure Therapy: No known cure meds for preventing complications |
