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79 Cards in this Set
- Front
- Back
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Are children merely little adults?
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no
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What is the neonatal period?
What is infancy? |
Neonatal = first 4 weeks of life
Infancy = the first year of life |
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What are the 3 leading causes of death in infancy?
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1. Congenital anomalies
2. Premature birth / low bweight 3. SIDS |
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What are the leading causes of death in agest 1-14?
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1. Accidents
2. congenital anomalies 3. Malignant neoplasma |
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What are the top 3 causes of death in ages 15-24?
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1. Accidents
2. Homicide 3. Suicide |
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What are congenital anomalies?
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Morphologic defects present at birth, but not necessarily apparent until later in life.
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What is a Major Anomaly defined as?
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One that has significant cosmetic or functional effects
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Define malformation:
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A primary error of morphogenesis due to an intrinsically abnormal developmental process.
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What are some examples of malformations?
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-Poly/syndactyly
-Congenital heart defect -Anencephaly |
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Define Disruption:
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Destruction of an organ or body region that was previously normal in development.
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What are disruptions the result of?
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An extrinsic disturbance of morphogenesis.
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What are 2 of the classic examples of disruptions?
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-Amniotic bands
-Teratogens |
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What is another extrinsic disturbance of development?
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Deformation
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What is a Deformation?
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Localized or generalized compression of a growing fetus by abnormal biomechanical forces.
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What is the most common cause of deformations?
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Uterine constraint
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What are 4 maternal risk factors for deformation?
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-First pregnancy
-Small uterus -Malformed uterus -Leiomyomas |
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What are 3 Fetal/placental risk factors for deformation?
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-Oligohydramnios
-Multiple fetuses -Abnormal fetal presentation |
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What is a classic example of deformation?
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Club feet
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What is a Sequence?
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A pattern of cascade anomalies
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How often do congenital anomalies occur singly? In sequences?
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50/50
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What is a classic example of Sequence?
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Potter sequence
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What is Potter sequence?
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Oligohydramnios
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What are some causes of oligohydramnios?
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-Leakage due to amnion rupture
-Uteroplacental insufficiency from maternal HTN or toxemia -Renal agenesis in the fetus |
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What are the 4 common manifestations of oligohydramnios / potter sequence?
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-Flattened facies
-Hand/foot position abnormality -Dislocated hips -Hypoplastic lungs |
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What makes a Syndrome different from a Sequence?
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Sequence is caused by a single localized initiating defect; a syndrome can't be attributed to one thing like that.
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What are syndromes often caused by?
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A single etiologic agent that simultaneously effects several tissues.
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What is Agenesis?
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Complete absence of an organ and its associated primordium
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What is aplasia?
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The absence of an organ owing to the failure of development of the primordium
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What is atresia?
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Absence of an opening of usually a hollow visceral organ (trachea or intestine)
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What is hypoplasia?
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Incomplete/underdevelopment of an organ w/ decreased numbers of cells
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Hyperplasia?
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Overdevelopment of an organ associated w/ increased numbers of cells
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What is an abnormality of an organ or tissue caused by an increase or decrease in cell size?
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Hypertrophy or hypotrophy
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What is an abnormal organization of cells in the context of malformations called?
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Dysplasia
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What are the 3 major categories of causes of congenital anomalies?
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-Genetic
-Environmental -Multifactorial |
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What are 2 genetic causes of congenital anomalies?
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-Chromosomal aberrations
-Mendelian inheritance |
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What are environmental causes of congenital anomalies?
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-Maternal/placental infections
-Maternal disease states -Drugs/chemicals -Irradiation (rare) |
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What % of congenital anomalies are multifactorial?
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About 1/4
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What % of congenital anomalies have an UNKNOWN IDIOPATHIC cause?
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40-60%
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What are the top four karyotypic abnormalities causing congenital malformations that are most compatible with life?
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1. Down syndrome
2. Klinefelter syndrome 3. Turner syndrome 4. Patau syndrome (trisomy 13) |
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What happens to the MAJORITY of karyotypic abnormalities?
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Death within utero
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What type of inheritance do single gene mutations that cause congenital abnormalities follow?
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Mendelian patterns
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What are 90% of single gene defect congenital anomalies?
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Auto dominant or recessive
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What are the abnormal genes often involved in?
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Organogenesis and development
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What gene defect is associated with Holoprosencephaly?
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Sonic hedgehog
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What gene defect is associated with syndactyly and polydactyly?
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GLI3
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How is GLI3 related to sonic hedgehog?
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It is a downstream target of sonic hedgehog signalling.
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What are 3 environmental causes of disruptions in fetal development?
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-Viral infections
-Drugs -Irradiation |
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What viruses are known to cause fetal malformation?
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-Rubella
-CMV -Herpes HSV -VZV -Influenza -Mumps -HIV -Enterovirus |
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What is the at-risk period for rubella infection during gestation?
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-Conception
to -16th week gestation |
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When is the most critical period of rubella risk?
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The first 8 weeks - during organogenesis.
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What is the major tetrad associated with Rubella embryopathy?
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1. Cataracts
2. Heart defects (PDA, VSD, TOF) 3. Deafness 4. Mental retardation |
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What is the most COMMON intrauterine infection?
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CMV
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When is the highest at-risk period for CMV infection?
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During the 2nd trimester
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So which virus is more apt to cause congenital malformations?
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Rubella, as it is more of a risk during organogenesis.
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What are 5 effects of fetal alcohol syndrome on the infant?
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GRAMMPS:
Growth Retardation Atrial septal defect Microcephaly Maxillary hypoplasia Palpebral fissures short |
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What maternal disease is a high risk factor for congenital malformation?
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Maternal diabetes
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What has an important impact on the occurence and type of anomaly produced in utero?
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Timing of prenatal teratogenic insult.
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What are the 2 phases of intrauterine development?
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1. Embryonic period
2. Fetal period |
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What is the embryonic period?
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The first 9 weeks of pregnancy
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What is the fetal period?
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Beyond 9 weeks to birth.
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During what period is the embryo EXTREMELY susceptible to teratogens?
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Week 3-9
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When is the PEAK sensitivity to teratogens/
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Weeks 4-5
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Why is weeks 4-5 the critical period of sensitivity?
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That is when organogenesis is occurring.
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In what 3 factors can abnormalities cause cleft palate?
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-Retinoic acid
-TGF (transforming) -FGF (fibroblast) |
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What are 2 very important families of developmental genes?
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-Homeobox
-Pax |
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What are HOX genes important in?
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Patterning of limbs, vertebrae, and craniofacial structures.
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What do mutations in HOXD13 cause?
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Synpolydactyly
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What do mutations in HOXA13 cause?
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Hand-foot-genital syndrome
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What malformations are seen in HFG syndrome?
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-Distal limb
-Distal urinary tract |
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What is an upstream regulator of HOX genes?
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Retinoic acid
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What molecule regulates allows for placental uptake of retinol? What binds retinol once in fetal cells?
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RBP - retinol binding protein
CRBP - cytoplasmic retinol binding protein |
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What does CRBP regulate?
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The conversion of retinol to retinoic acid and metabolites
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What are the 2 fates of Retinoic acid inside fetal cells?
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1. Remain in cytoplasm bound to CRABP
2. Enter nucleus to bind to RAR, RXR |
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What does the Retinoic Acid/RAR/RXR complex do?
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Regulates transcription of HOX genes that contain RARE (response elements).
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What is detrimental to fetal development; lack of Retinoic Acid, or too much of it?
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BOTH
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What organ systems are affected in absence of retinoic acid?
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-Eyes
-GU -Cardiovascular -Diaphragm/lungs |
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What organ systems are affected in Retinoic Acid Embryopathy?
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-CNS
-Cardiovascular -Craniofacial |
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What is the theory for why Retinoic Acid lack/abundance cause developmental problems?
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By interating with downstream regulation of HOX genes
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How are PAX gene abnormalities different from HOX?
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They cause SINGLE malformations rather than SYNDROMES
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