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78 Cards in this Set
- Front
- Back
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Structural or functional defect present at birth
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Birth Defect
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Study of birth defects
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Teratology
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Any agent that causes a new defect or causes an increase in a known defect
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Teratogen
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structure abnormality (based on frequency)
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Anomaly
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anatomical defect, intrinsically caused (genetic, something built in)
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Malformation
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anatomical defect, extrinsic caused (environmental)
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Disruption
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structure formed normally but a mechanical influenced caused deformation (club foot)
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Deformation
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histological changes in tissue, usually affects multiple organ systems
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Dysplasia
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early on defect effects future development of that area
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Polytopic field defect
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unrelated defects with single abnormality or etiology
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Malformation Syndrome
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related defects with single abnormality or etiology
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Malformation Sequence
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recognized pattern of defect with unknown etiology
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Association
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Three Causes of Birth Defects
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Genetic- 30%
Environmental- 10% Multifactorial- 60% |
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Three kinds of genetic associated congenital anomalies
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Numerical
Structural Mutant Genes |
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any deviation from diploid number (46)
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Aneuploidy
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1 Chromosome of the pair
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Monosomy
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3 chromosomes of the pair
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Trisomy
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45, XO, half mosaic
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Turner Syndrome
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Short, undeveloped sexual, webbed neck
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Turner Syndrome
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47,XY,21+
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Down Syndrome
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Variable levels of mental retardation, simian crease, heart problems, stenosis of duodenum
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Down Syndrome
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47,XXY
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Klinefelter
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Tall (longer legs), lack of sexual development, learning disabilities
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Klinefelter
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Monosomy of an Autosome
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Lethal
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transfer of a part of one chromosome to a different chromosome
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Translocation
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46,XX 5p- or 46, XY 5p-
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Cri- du-chat syndrome
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Severe mental retardation, Microcephaly
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Cri- du-chat syndrome
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"cat cry” deformed vocal cords
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Cri- du-chat syndrome
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Affects bones and endocrine
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Prader-Willi
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Affects CNS
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Angelman
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paternal microdeletion, Chromosomes 15
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Prader-Willi
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maternal microdeletion, Chromosome 15
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Angelman
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Polydactaly and achonroplasia
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Autosomal dominant
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Tar syndrome, Congenital adrenal hyperplasia
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Autosomal recessive
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50% Gene expression
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Autosomal dominant
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25% Gene expression
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Autosomal Recessive
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Gene inactivation in suppressed X in women
Color blindness Hydrocephalus |
Sex Linked Recessive
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Long Face, Mental retardation, autism-like
Only in Males |
Fragile "X"
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synthetic steroids in birth control pills
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Progestogen
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increases transposition of greater vessels by 30%
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Progestogen
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increase in hypospadias by 100%
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Progestogen
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Females babies would get into 20s and have abnormal carcinoma of the vagina
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Diethylstilbestrol (DES)
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Small testes in males
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Diethylstilbestrol (DES)
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induces ovulation but can also cause anecephaly
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Clomiphene
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causes maternal vascular damage in placenta
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Insulin (not teratogenic)
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Caudal regression syndrome
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Insulin (not teratogenic)
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decrease in iodides decreases thyroxione which causes synapses/myelination
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Cretinism
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increase in iodides (thyroid gland)
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Goiter
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intrauterine growth retardation, cleft lip/palate, “V” shaped eyebrow
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Trimethadione
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IUGR, clefts, distal digital hypoplasia
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Fetal hydantoin syndrome
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interferes with calcification (teeth)
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Tetracycline
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category D, can lead to hearing loss
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Streptomycin
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Phenobarbital – appears to be safe
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Phenobarbital – appears to be safe
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Penicillin – appears safe
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Penicillin – appears safe
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Prenatal growth retardation & low birth weight
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Fetal Alcohol Syndrome
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Reduced palpebral fissures
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Fetal Alcohol Syndrome
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Maxillary hypoplasia
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Fetal Alcohol Syndrome
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Mental deficiency (highly variable)
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Fetal Alcohol Syndrome
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cerebral infarcts (strokes), increase in abruption placenta
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Cocaine
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IUGR, altered sleep patterns
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Marijuana
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Renal function impaired
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Antihypertensive Agents
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Hypoplasia of calvarium (top of skull)
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Antihypertensive Agents
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Heparin appears to be safe and does not cross placenta
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Heparin appears to be safe and does not cross placenta
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causes CNS, limb, and nasal problems
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Warfarin
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Rubella causes what?
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cataract, cardiac defects, can’t hear
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Cytomegalovirus causes what?
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hard to diagnose, accounts for about 25% MICROCHEPHALY
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Herpes Simplex I and II cause what?
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microcephaly
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Varicella zoster causes what?
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Chicken pox/shingles
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Upper lip philtrum is flared out
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HIV
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parasite in lamb/pork, soil, infected cats, intracranial calcifications
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Toxoplasma Gondii
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hydrocephalis skeletal defects, hutchinson’s teeth\_/\_/
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Treponema pallidum (Syphilis
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“X” rays are ionizing radiation. Not a proven teratogen at diagnostic levels
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"X” rays are ionizing radiation. Not a proven teratogen at diagnostic levels
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decreases uterine blood flow, 30% increase in premature birth
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Nicotine
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acutane, category X, cleft palate, eyes ears affected
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Retinoic acid/Vitamin A
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shows reduced rates of neural tube defects
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Folic Acid
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disease like cerebral palsy
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Methyl mercury
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accumulates in the fetus, neuro problems
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Lead
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Hyperthermia causes what?
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lethal, anencephaly
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