Congenital Flashcards
Describe the stages within the embryonic period
Day 0: have fertilization forming zygote
Day 2: zygote divide into 4 cells and then repeatedly
Day 3: form ball of cells the morula
Day 4: cavity of inner cell mass forms in blastocyst
Day 6: blastocyst implants in uterus with the trophoblast
Day 8: inner cell mass forms the epiblast and hypoblast (yolk sac)
Day 14-15: form bilaminar disc and then trilaminar disc
Day 16-18: primitive node epiblast cells invaginate and migrate anteriorly to form the notochord
3rd week: formation of somites
4th Week: folding and beginning of
Weeks 4-8: Organogenesis
Discuss the features of Down’s Syndrome
Trisomy 21
Presentation:
Eyes: up slanting palpebral fissure, inner epicanthal folds, myopia
Ears: low set, small ears, hearing loss
Face: flat nasal bridge, protruding tongue
MSK: short, joint hyperflexibiltiy, atlanto-axial instability, transverse palmar crease
Cardiac: VSD
GI: duodenal atresia, Hirschprungs
CNS: hypotonia, developmental delay
Systemic: hypothyroidism, leukemia
Discuss the features of Turner’s syndrome
45X - missing extra X chromosome Presentation: Face: low posterior hair line Chest: Broad chest with wide-spaced nipples Cardio: coarctation, bicuspid valve Abdomen: renal anomalies MSK: Short stature, small webbed neck
List the three forms of spina bifida occulta
Spina Bifida occulta:
- failure to fuse posterior neural arch -> absence of spinous processes
- have sacral dimple, hair tuft, sinus
Spina bifida meningocele
- failure to close neural tube -> herniation of meningeal tissue and CSF through defect without neural tissue
- no disability
- cyst at lumbosacral area
Spina bifida myelomeningocele
- failure to close neural tube -> herniation of meningeal tissue and CSF through defect along with CNS tissue
- flattened mass of nervous tissues with or without overlying membrane
- sensory motor disability
- urinary and fecal incontinence
Discuss the findings for cleft palate
Presentation:
- Cleft lip or cleft palate that can be complete or partial and bilateral or unilateral
Problems with Cleft Palate:
- eustachian tube dysfunction -> risk of otitis media and COME
- poor dental occlusion
- interference with feeding
- velopharyngeal insufficiency interfering with speech
Discuss the presentation of fetal alcohol syndrome
- is a physical and mental defect due to high level of alcohol consumption during pregnancy
Presentation: - Growth deficiency
- Facial anomalies: short palpebral fissure, flattened philtrum, thin upper lip and flat midface
- Cardiac: VSD
- Renal: horseshoe kidney, aplastic kidney
- CNS dysfunction: microcephaly, seizure disorder, hyperactivity, learning disability
Discuss the findings for fetal hydantoin syndrome
- defects from exposure of anti-epileptics Presentation: - IUGR - midface hypoplasia - developmental delay - methhemoglobinemia
Discuss the findings from maternal tobacco smoking
Presentation:
- pregnancy: miscarriage, premature rupture of membranes, prematurity, placental abruption, placenta previa
- IUGR,
- increased risk of cerebral palsy and learning problems
- cleft lip
- pulmonic stenosis
- clubfoot
Discuss the findings from illicit drug use during pregnancy
Effects of Benzodiazepines: - cleft lip/palate - congenital heart defect - apnea, hypotonia, newborn abstinence syndrome (tremor, irritability, hypertonia) Effects of Cocaine/Amphetamines: - segmental intestinal atresia - IUGR Effects of Opioids: - IGUR - abstinence syndromes
What are the definitions to the following? Malformation: Deformation: Disruption: Dysplasia:
Malformation: defect of an organ due to instrinsically abnormal developmental process
Deformation: abnormalities of position of body parts due to extrinsic intra-uterine mechanical forces that can modify it
Disruption: defect of organ from destruction with normal vascular development
Dysplasia: anomalies that result from abnormal organization of cells
