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37 Cards in this Set
- Front
- Back
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T or F: Birth defects are the 2nd leading cause of infant mortality
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false! it's the first!!!
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define malformation
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inborn error of morphogenesis, or, resulting from intrinsically abnormal dev process (cleft lip, NTD, heart defect, etc.)
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define deformation
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deformation of a "normal" structure (clubfoot, congenital bowing, etc.)
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define disruption
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extrinsic breakdown of, or an interference with, an originally normal dev process (disruption of a normal structure) (cataract from rubella, amniotic band amputation, etc.)
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define dysplasia
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tissue(s) widely affected (ectoderm, skeleton, etc.)
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how do you prevent NTDs?
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folic acid supplementation
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what has better outcomes: pre- or post-natal repair of myelomeningocele?
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prenatal has better outcomes but is riskier
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in simple terms, what causes deformations?
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mechanical forces
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when in gestation do deformations generally occur and why?
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3rd trimester usually due to fetal crowding
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what is craniosynostosis?
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premature closure of skull sutures
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lambdoid synostosis results in a __ shaped head b/c one of the __ sutures is closed
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trapezoid-shape
one of the lambdoid sutures is closed |
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in a positional-molded head you get a __ shape
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parallelogram
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what causes craniosynostosis?
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genetic malformation or deformation
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what is plagiocephaly?
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asymmetrical distortion (flattening of one side) of the skull
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T or F: mechanical forces can cause skull deformation with or w/o craniosynostosis
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TRUE
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what is the triad of rubella syndrome?
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microcephaly, PDA, cataracts
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rubella syndome is a __
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disruption
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tissue specific -->
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dysplasia
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what typically characterizes skeletal dysplasias?
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abnormal bone and joint development
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skeletal dysplasias may have associated __ and __
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malformations (cleft palate, polydactyly) and deformations (talipes, bowing of long bones)
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what tissues are typically affected in ectodermal dysplasias?
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skin, sweat glands, pores, hair, teeth, nails, hearing
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how are most ectodermal dysplasias inherited?
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most are Mendelian d/o
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what are some dysmorphic features assoc w/ ectodermal dysplasias?
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sparse/absent hair
everted lower lip thin nails |
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what is a "major anomaly"?
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one of medical or cosmetic significance
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how are many syndromes recognized?
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by their characteristic pattern of minor anomalies
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Presence of 3 or more minor anomalies suggests what?
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an underlying, more widespread defect in morphogenesis
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T or F: Some minor anomalies are genetic
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true (AD typically)
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Telecanthus is a feature of __
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Waardenburg syndrome type 1
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what is a sequence in terms of anomalies?
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a pattern of multiple anomalies derived from a single known prior anomaly or mechanical factor (pt w/ spina bifida has hydrocephalus and clubfoot --> 1 primary malformation)
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what is Potter's (oligohydramnios) sequence?
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renal agenesis --> oligohydramnios --> lung hypoplasia and fetal compression w/ deformation
amniotic fluid leakage and UT outlet obstruction |
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who gets jugular lymphatic obstruction sequence?
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pts w/ Turner Syndrome (45,XO)
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What is seen in jugular lymphatic obstruction sequence?
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swelling of neck and face
overgrowth of skin webbed neck ear anomalies puffy hands and feet deep set nails... |
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what is a syndrome?
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multiple primary anomalies (some w/ 2'ary or 3'ary effects)
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what is a syndromic malformation?
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it is associated with other primary motor or minor anomalies (that aren't 2'ary or 3'ary)
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what is a nonsyndromic malformation?
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an isolated anomaly (i.e. only one 1'ary malformation)
other anomalies are 2'ary |
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what is a pattern of multiple features thought to be causally and/or pathogenetically related?
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syndromic phenotypic expression
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at what stage of development does EtOH exposure lead to FAS?
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gastrulation (day 17 in humans)
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