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Pathology 2 > 2.3 congenital anomalies > Flashcards

2.3 congenital anomalies Flashcards

1
Q

highest frequencies of death under 1 year

A

congenital mlaformation, deformation, and chromosomal abnormalities, disorders related to short gestation and low birth weight, sudden infant death syndrome (SIDS)

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2
Q

congenital anomalies

A

morphological defects present at birth, may not be expressed until later in life, can or cannot be genetic defect, 3% of newborns have a major anomaly (cosmetic or functional significance), most common cause of death in first year of life, significant cause of mortality and morbidity in all early years of life, in reality, observed anomalies in live births represent the leaset serious that occur

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3
Q

malformations

A

primary error of morphogenesis with intrinsic abnormal development (anencephaly, congenital heart defects). Multifactorial. Single/multiple

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4
Q

disruptions

A

secondary destruction of organ/body region that was previously normal in development. Extrinsic distrubance (amniotic bands that compress portions of fetus)

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5
Q

Anencephaly

A

neural tube defect with absence of cerebral hemisphere, skull, and skin

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6
Q

cleft lip/palate

A

if isolated - compatible with life, with malformation syndrome - severe cardiac defects

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7
Q

deformations

A

like disruptions these are due to extrinsic disturbance as a localized/generalized fetal compression by biomechanical forces –> structural anomalies (uterine constraint, oligohydramnios) –>(club feet)

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8
Q

Sequence

A

cascade of anomalies triggered by one initiating event

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9
Q

Potter sequence of oligohydramnios

A

renal agenesis, amniotic leak, maternal HTN, toxemia (U/O insff) —-> all lead to oligo hydramnios —–>can lead to amnion nodosom (plaques of squamous cells and fibrin), pulmonary hypoplasia, and fetal compression —-> fetal compression can lead to pulmonary hypoplasia, altered facies, positioning defects of feet and hands, breech presentation

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10
Q

syndrome

A

a constellation of congenital anomalies that are thought to be pathologically related but unlike a sequence can not be explained by a single initiating event. Can have a single etiology, eg a viral disease or chromosomal alteration that affects different tissues

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11
Q

Causes of anomalies

A

genetic, environmental and multifactorial (50 - 75% unknown)

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12
Q

genetic causes of congenital anomalies

A

chromosomal (karyotypic) abberations, single gene mutsionts

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13
Q

karyotypic abberations

A

10-15% of CA

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14
Q

when do most karyotypic abberations occur

A

during gametogenesis (not familial)

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15
Q

ex of karyotypic abberation

A

Down’s a la Robertsonian translocation of 21 with another chromosome (4%)

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16
Q

karyotypic abberations and death

A

80-90% of chromosomal number abberations die in the uterus

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17
Q

single gene mutations inheritance

A

90% AD or AR and 10% X-linked

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18
Q

examples of loss of fn genes involved in normal organogenesis

A

sonic hedgehog - holoprosencephally, HOXGL13 - digit anomalies (polydactyly, syndactyly)

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19
Q

holoprosencephaly

A

incomplete separation of cerebral hemispheres across the midline

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20
Q

syndactyly

A

fused fingers

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21
Q

Environmental causes of CA

A

viral infections, drugs and chemicals, radiation, maternal diabetes

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22
Q

most common viral infections in CA

A

rubella, CMV (MOST COMMON - most asymptomatic)

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23
Q

risky period to contract rubella

A

conception to 16 weeks

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24
Q

incidence of rubella

A

50% 1st month, 20% 2nd, 7% 3rd

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25
Q

fetal defects that rubella causes

A

tetrad of cataracts, heart defects (numerous), deafness, and mental retardation (rubella embryopathy)

26
Q

risky period to contract CMV

A

2nd tirmester –organogenesis is almost complete by this time so frequency of anomalies is less than rubella, but damage can cause sever defects in formed organs

27
Q

fetal defects that CMV causes

A

microcephaly, mental retardation, deafness, hepatosplenomegaly

28
Q

drugs and chemicals

A

<1% of CA

29
Q

Examples of drugs/chemicals on CA

A

retinoic acid (vit A def), Thalidomide, folate antagonists, anticonvulsants, warfarin, androgenic hormones, smoking

30
Q

Thalidomide

A

50-80% incidence of limb developmental defect (phocomelia),

31
Q

smoking

A

inconclusive data on nicotine spontaneous abortions, premature labor, placental abnormalities, dec birth weight, SIDS

32
Q

Fetal alcohol syndrome

A

even 1 drink/day associated with inc risk of: growth retardation, microcephaly, ASD, short palpebral fissures, maxillary hypoplasia, facial dysmorphism, MR

33
Q

what is the most common preventable form of mental retardation in the USA

A

fetal alcohol syndrome

34
Q

fetal alcohol syndrome facies

A

epicanthal folds, flat nasal bridge, smalll palpegral fissures, railroad track ears, upturned nose, smooth philtrum, thin upper lip, hockystick crease

35
Q

radiation

A

mutagenic, carcinogenic, teratogenic, when radiation is used to treat cervical cancer of pregnant women microcephaly, blindness, skull defects, spinabifida, and numerous others occurred

36
Q

incicence of CA due to maternal diabetes

A

60-10%

37
Q

maternal diabetes induced CA

A

hyperglycemia (mother)–>hyperinsulinemia (infant) –> inc body fat, muslce mass, organomegaly (fetal macrosomia) - also cardiac anomalies and neural tube defects, higher incidence of RDS

38
Q

with a 12lb baby suspect

A

maternal diabetes

39
Q

incidence of CA due to multifactorial causes

A

50%

40
Q

multifactorial CA result from

A

inheritance of multiple genetic pleomorphism that lead to succeptibility phenotype, and that plus the environment leads to manifestation

41
Q

factors affecting pathogenesis of congenital anomalies

A

timing - major impact on occurrence and type, teratogens - may act in similar manner as genetic mutations, genes affected - certain genes no known to be major players in organogenesis - hedgehog, homeobox

42
Q

timing - critical periods in development

A

within the first 9 months organs are formed –this is the most critical time, after this you might see minor abnormalities, 4-5 monts??

43
Q

what is the period that leads to lethal injury or induces abortion

A

3 weeks

44
Q

what period is very succeptible to teratogenisis

A

3 and 9 weeks, with peak at 4 to 5 weeks, organs forming

45
Q

fetal period

A

relatively resistant but formed organs can be affected as to sized or function

46
Q

functions affected during development

A

cell migration, cell proliferation, cellular interactions, cell-matirx interactions, apoptosis, hormonal influences, mechanical forces

47
Q

major genes controling onrgan development

A

sonic hedghog, homeobox genes (HOS), pared box genes (PAX)

48
Q

sonic hedgehog genes are involve in

A

cell migration patterns during development

49
Q

cyclopamine

A

disrupts expression of hedgehog genes. Derived form california lily plant. Pregnat sheep that eat california lilies give birth to offspring with severe craniofacial abnormalities including ——>cyclopia and holoprosencephaly.

50
Q

pts with holoprocencephaly commonly have mutations in

A

sonic hedgehog genes

51
Q

hox genes

A

discovered in drosophilia mutant antennapedia where mutations caused legs to appear where antennae should be

52
Q

hox genes in vertebrates are involved in

A

development of limb, vertebrae, and craniofacial structures

53
Q

what mutations induce synopolydactyly and hand-foot-genital syndrome (distal limb and distal urinary tract malformations)

A

HOXD13

54
Q

PAX gene code for

A

DNA binding proteins

55
Q

PAX2 mutated in

A

renal-coloboma, defects in kidney, eyes, ears, and brain

56
Q

PAX3 mutated in

A

Waardenberg Syndrom (pigment anomalies and deafness)

57
Q

PAX6 mutated in

A

congenital absence of the iris (aniridia)

58
Q

traslocation associated with alveolar rhabdomyosarcoma

A

PAX 3 and 7

59
Q

translocation associated with lymphomas

A

PAX 5

60
Q

translocation associated with thyroid tumors

A

PAX 8

Pathology 2 (15 decks)

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