Term
| Symptoms of Patau's syndrome |
|
Definition
- holoprosencephaly w/ or w/o cyclopia or cebocephaly
- severe facial clefting
- postaxial polydactyly
- congenital heart disease
|
|
|
Term
| symptoms of Edward's syndrome |
|
Definition
- severe IUGR
- micrognathia
- abnormal positioning of second or fifth finger overlapping third and fourth finger
- rockerbottom feet
- congenital heart disease
|
|
|
Term
| Symptoms of Down's syndrome |
|
Definition
- slanting palpebral fissure
- simian crease
- congential heart disease
- endocardial cusion defect
- duodenal atresia
- transient leukemoid reaction
|
|
|
Term
| define malformation and give examples |
|
Definition
- define- morphologic defect
- examples
- neural tube defects
- posterior urethral valve
|
|
|
Term
| define disruption and examples |
|
Definition
- define- a defect due to extrinsic interferences
- examples- amniotic bands, teratogens, infections
|
|
|
Term
| define deformation and give examples |
|
Definition
- define- abnormal shape
- examples
- oligohydramnios
- Potter's sequence
|
|
|
Term
| define developmental dysplasia and examples |
|
Definition
- define- abnormal organization
- examples
- generalized- osteogenesis imperfecta
- localized- hemangioma or renal dysplasia
|
|
|
Term
| define field defect and examples |
|
Definition
- define- pattern of anomalies derived from disturbances of a single developmental field
- examples
- holoprosencephaly complex
- prune belly
|
|
|
Term
| define sequence and give examples |
|
Definition
- define- consequence of action
- examples
- Potter's sequence
- Kassabach Merhtt sequence
|
|
|
Term
| Define syndrome and give examples |
|
Definition
- pattern of multiple anomalies thought to be pathogenetically related and not a known sequence or polytopic field defect
- examples
- Beckwith Wiedmann syndrome
- Meckel's syndrome- polydactyly, occipital encephalocele, cystic kidneys
|
|
|
Term
| define association and give examples |
|
Definition
- nonrandom occurence of multiple anomalies not known to be polytopic defect, sequence or syndrome
- example- VACTERL assoc. (vertebral/anal/ atresia/cardiac/TE fistula/renal limb)
|
|
|
Term
| most common cause of death in first trimester |
|
Definition
|
|
Term
| most common cause of second trimester death |
|
Definition
- intrauterine infection
-
Group B strep
-
fusobact
-
Listeria monocytogenes
-
Treponema pallidum
|
|
|
Term
| most common reason for deaths in third trimester |
|
Definition
- maternal factor
- maternal/fetal circulation
- pre eclampsia/eclampsia
- abruptio placenta
- uncontroled gestational DM
- hydrops fetalis
- Rh incompatibility
- heart defects
- infections
|
|
|
Term
| pathophysiology of hyaline membrane disease |
|
Definition
- low surfactant in premature baby
- theres a high alveolar surface tension
- lead to hypoxemia and high CO2 levels
- this combines to cause acidosis
- acidosis leads to vasoconstriction of pulmonary vasculature
- this will cause hypoperfusion
- hypoperfusion leads to endothelial damage
- plasma will leak out fibrin, leading to hyaline membrane
|
|
|
Term
| gross features of hyaline lung disease |
|
Definition
- solid
- airless (it will sink when you place in water)
- red
|
|
|
Term
| microscopic features of RDS (acute, reparative) |
|
Definition
- acute- hyaline membranes
- reparative (more than 48 hrs)- membranes organize and theire is metaplasia of bronchi
- long standing healed bronchopulmonary dysplasia with prolonged ventilation or oxygen toxicity
- larger airways due to squamous metaplasia
- fibrosis of peribronchiole and interstitial
- thickened alveolar walls
|
|
|
Term
| pathophysiology of necrotizing enterocolitis |
|
Definition
- multifactorial
- premature babies have immature bowels and poor IgA
- perinatal asphyxia cause ischemic damage
- abnormal colonization of bacteria
- hypertonic formula feeding
|
|
|
Term
| gross pathology features of necrotizing enterocolitis |
|
Definition
- dusky red
- dilated and may have air bubbles
- perforation
|
|
|
Term
| microscopic features of necrotizing enterocolitis |
|
Definition
- early- coagulative necrosis
- later- acute inflammation
- if healed- variable depending on injury extent, so you could be normal, have stenosis, or atresia
|
|
|
Term
| Anatomic area of necrotizing colitis |
|
Definition
- terminmal ileum
- cecum
- right colon
|
|
|
Term
| Most common CNS lesion in neonates |
|
Definition
| intraventricular hemorrhage |
|
|
Term
| anatomic source of intraventricular hemorrhage for premature infants and term infants |
|
Definition
- premature- subependymal germinal matrix full
- term- choroid plexus
|
|
|
Term
| pathogenesis of intraventricular hemorrhage |
|
Definition
- multifactorial
- poor autoregulation of cerebral blood flow
- germinal matrix with large capillary bed
- excessive cerebral blood flow
|
|
|
Term
| Pathology of intraventricular hemorrhage (different grades) |
|
Definition
- grade I- hemorrhage confined to germinal matrix
- grade II- hemorrhage extends into ventricles
- grade III- above plus secondary hydrocephalus
- grade IV- above, with white matter necrosis
|
|
|
Term
| typical cause and definition of hypoxic ischemic encephalopathy |
|
Definition
- acute neurological dysfunction usually a consequence of severe birth asphyxia
|
|
|
Term
| histopathology of hypoxic ischemic encephalopathy |
|
Definition
- white matter is paeriventricular leukomalacia
- grey matter
- ulegyria
- boundary zones
- cortical laminal necrosis within basal ganglia, pons, hippocampus
|
|
|
Term
| gross features of hypoxic ischemic necrosis |
|
Definition
|
|
Term
| microscopic features of hypoxic ischemic necrosis |
|
Definition
- early- nuclear fragmentation
- days-weeks- microglial, gifter cells
- healed- gliosis, cysts
|
|
|
Term
| Pathological features of arnold chiari |
|
Definition
- small posterior fosta
- this leads to herniation of cerebellar vermis elongation of fourth ventricle (vermis extend through foramen magnum
- distortion and notching of brainstem asociated with spina bifida (caudal displacement of medulla)
|
|
|
Term
| Dandy walker malformation pathological features |
|
Definition
- aplasia of cerebellar vermis cystic dilation of fourth ventricle
- large posterior fossa
- upward displacement of torcula
|
|
|
