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Mental deficiency;
Severe central nervous system
malformations;
Sloping forehead; malformed ears, scalp
defects;
Microphthalmia;
Bilateral cleft lip and/or palate;
Polydactyly; posterior prominence of the
heels.
Trisomy 18- Edwards syndrome
Mental deficiency;
growth retardation;
prominent occiput; short sternum;
ventricular septal defect;
micrognathia;
low-set malformed ears,
flexed digits,
hypoplastic nails; rocker-bottom feet.
Turner syndrome- XO
Klinefelter syndrome- XXY trisomy
Small testes, hyalinization of seminiferous
tubules; aspermatogenesis;
Often tall with disproportionately long
lower limbs.
Intelligence is less than in normal siblings.
Approximately 40% of these males have
gynecomastia
Cri du chat syndrome- terminal
deletion chromosome 5
Fragile X syndrome
1 in 1500 male births
may account for much of the excess of
males in the mentally retarded population
Achondroplasia
Any agent that can produce a congenital anomaly or oncrease the
incidence an anomaly in the population
TERATOGENS
TERATOLOGY
Study of causes, mechanisms, and
patterns of abnormal development
Basic concept is that certain stages
of embryonic development are more
vulnerable to disruption than others
Organs and parts of embryo are most
sensitive to teratogenic agents during
periods of rapid differentiation
Possible mechanisms of action include
alteration in intracellular matrix and fetal
environment
Teratogens probably cause disruption of
gene activity at any critical stage
Principles of teratogenesis
Critical periods of development
Dosage of drug or chemical
Genetic constitution of the embryo
DRUGS
THALIDOMIDE
alcohol
Phenytoin
Viruses
Rubella
Toxoplasma infection
Female hormones