Dysmorphology - jw
Terms in this set (24)
How many pregnancies are unplanned? Impact of multivitamin on lack of birth defects?
Half. Reduced by half
Amnioplasia Amniotic Band
Arm gets tangle in amniotic band or umbilical or umbilical cord - lack of movement allowed limb to stay intact
Intrinsic factors result in abnormal morphogenesis
A recognizable pattern of anomalies with a single cause.
Causes of abnormal morphogenesis
Extrinsic factors- lower recurrence risk
Instrinsic factors- higher recurrence risk
Anomaly caused by an abnormal mechanical force that alters the shape of, but does not destroy, an otherwise normal organ without halting morphogenesis.
Anomaly caused by an environmental or extrinsic factor that DESTROYS otherwise normal tissue and interrupts normal morphogenesis.
Most women consume some type of medication during pregnancy and they can often be treated with reassurance.
Most drugs of abuse are not major teratogens with the exception of alcohol
A pattern of malformations affecting the same tissue type.
Osteogenesis Imperfecta, Type II
A pattern on anomalies that occur together more often than expected by chance alone, but not in any single pattern and not necessarily with a single cause.
A pattern of anomalies in which a primary defect leads to one or more secondary defects; a cascade effect.
Multiple congenital anomalies
When there is more than one anomaly, the relationship between the anomalies is the key to the diagnosis:
Van der Woude syndrome
Isolated Cleft lip/Palate
Isolated Neural tube defect
Adams Oliver syndrome
Amyoplasia with amniotic band
Amniotic Band Sequence
Disruption:Maternal and Vascular
Hypotension, placental hemorrhage/abruption
Congenital Anomoly data
Multifactorial disorders................... 20%
Single gene disorders...................... 8%
Environmental agents...................... 6%
Chromosome anomalies................... 6%
Oligohydramnios sequence - Potter sequence
Breech position in utero
Typical "Breech" head
Compression & extra-uterine gestation
Compression & Transverse lie
Retinoic Acid - Accutane
Absence of external auditory canal
Ear, aortic arch, brain defects, SAb
Limb defects, phocomelia
Growth retardation, miscarriage
Alcohol - Fetal Alcohol Syndrome
Fetal alcohol spectrum affects up to 1% of population in US
Poor growth, microcephaly
Mental retardation, short palpebral
fissures, smooth philtrum, thin upper lip,
"railroad track ears"
Heart defect, Cleft lip
The CDC recommends that all women of reproductive age take a folic acid supplement of 400 micrograms, daily.
The average American female consumes about 140 micrograms of folic acid/day from dietary sources alone
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