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17 Cards in this Set
- Front
- Back
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What is the definition of birth defect?
- thus defined, are they the leading cause of infant death? |
Any structural or functional abnormality determined by factors operating largely before or during gestation
- yes |
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Give me examples of the following:
- malformation - deformation - disruption - dysplasia |
- Malformation - an “inborn error of morphogenesis”
cleft lip/palate, neural tube defect, heart defect... **something caused by an intrinsically abnormal developmental process** - Deformation - deformation of a “normal” structure caused by MECHANICAL forces. e.g., clubfoot, plagiocephaly, congenital bowing - Disruption - results from the *EXTRINSIC* breakdown of, or interference w/, a intrinsically normal process. e.g., disruption of a “normal” structure cataract from rubella, amniotic band amputation - Dysplasia - tissue(s) widely affected ectoderm, skeleton |
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Fetal crowding, deficient fetal movement... both are causes of what class of birth defects?
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deformation
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What is Plagiocephaly? Tx?
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deformation of the head along a crazy axis
- band tx (this is what that kid related to Josh's wife had) |
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What are amniotic bands? what can they cause
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little bands of the innter amnion (membrane) that have come off and then can end up wrapped around a fetal structure or swallowed.... --> disruptions.
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What are the three components of rubella syndrome?
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microcephaly, PDA, and cataracts.
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Does dysplasia tend to be tissue specific or organ-specific?
- what is the definition of dysplasia? |
tissue.
- abnormal organization of cells into tissue(s) and its morphologic result(s) |
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What is the cause of most skeletal dysplasias?
- what else can cause it sometimes? |
Mendelian (single gene) disorders
- warfarin/coumadin |
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An anomaly that is of medical or cosmetic significance is called...
one that is an unusual morphologic feature that is of no serious medical or cosmetic consequence? |
major
minor |
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Presence of 3 or more minor anomalies/malformation/variants suggests what?
- A single, isolated major malformation unassociated with other anomalies may have been caused by...? - But, the finding of several other anomalies, even minor ones, suggests that ...? |
a more widespread defect in morphogenesis.
- a coincidental combination of (unknown) genetic and/or environmental factors and chance that would be unlikely to occur again in a future pregnancy. - there may have been a wide-spread insult to or interference with early morphogenesis. |
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A frontal hair upsweep, an abnormal whorl position, a widow's peak, and a low posterior hairline are all classed as what?
Cyclopia, hypoteriorism, telecanthi, hyperteiorism? |
dysmorphic features.... minor anomalies.
ditto. |
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We frequently see pts with the combination of hydrocephalus, an NTD, and talipes equinovarus:
How many primary malformations do these pts have? |
1, the NTD. The neural deficit then causes the clubfeet (deformation) and the hydrocephalus is secondary to a CSF flow obstruction.
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What is the "potter" sequence?
- what is this called now? why? - what is this an example of, like the NTD defect? |
Renal agenesis --> oligohydramnios --> lung hypoplasia & fetal compression w/ deformations..
- note that this is another case with just one primary defect. - "oligohydramnios sequence;" because it's been recognized that other things other than renal agenesis can cause it (Amniotic fluid leakage, UT outlet obstruction) - a pathogenic sequence: a pattern of mult anomalies derived form a single known or presumed prior anomaly or mechanical factor. |
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What is the jugular lymphatic obstruction sequence?
- what syndrome is it seen in? |
Lymphatic stasis distends jugular lymphatic sac
- Fetal edema --> Swelling of the neck and face Overgrowth of skin Webbed neck; ear anomalies Puffy hands and feet Predominance of whorls; deep-set nails - Turner's |
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What do we call it where there are multiple primary anomalies, some having many 2nd/tertiary effects?
- what is pleiotropy? |
a syndrome.
- quality of an allele to produce more than one effect (multiple primary defects, e.g., Marfan's syndrome) |
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A mutant EYA1 gene can cause what?
Marfan's syndrome is a mutation in what? |
Branchio-oto-renal syndrome:
Ear: Cochlea & external ear Face/Neck: cysts, fistulas Kidney: dysplasia, collecting ducts Fibrillin, 15q21.1 |
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The so-called “classic FAS face” only occurs with an exposure during what?
What do exposures at other times cause? - name for this? |
early gastrulation ~day 17.
Clearly affect the development of the CNS and other organ systems, but do not cause the FAS facies. - thus trying to dx FAS by facial appearance misses the point! ARND: alcohol-related neurodevelopmental disorder ARBD: alcohol-related birth defects |
