ANAT 1502 Birth Defects - Human Birth Defects Monday, July...

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Human Birth Defects Monday, July 12, 2010
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Teratology • The study of the causes, mechanisms and patterns of abnormal development Monday, July 12, 2010
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Types of Congenital Anomalies • Malformations – occur during formation of structures • Disruptions – occur after formation • Deformations – due to mechanical forces that mold a part of the fetus over a period of time • Dysplasia – “bad” cells Monday, July 12, 2010
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Abnormalities are Caused by • Genetics • Environment • Both (Multifactorial) Monday, July 12, 2010
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• Fig 9-1 pg. 118 Monday, July 12, 2010
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Numerical Chromosome Abnormalities • Nondisjunction causes – Monosomy – Trisomy Monday, July 12, 2010
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• Fig 9-2, pg 120 Monday, July 12, 2010
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Monosomy • Most will die • Turner syndrome – 45X, therefore always female Monday, July 12, 2010
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Turner Syndrome Symptoms Possible symptoms include a combination of: Short height Webbed neck Drooping eyelids A "shield-shaped", broad, flat chest Absent or incomplete development at puberty, including sparse pubic hair and small breasts Infertility Dry eyes Absent menstruation Absent normal moisture in vagina; painful intercourse http://www.nlm.nih.gov/medlineplus/ency/article/ 000379.htm#Definition Monday, July 12, 2010
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Trisomies • Trisomy 21 – Down syndrome • Trisomy 18 – Edwards syndrome • Trisomy 13 – Patau syndrome • Trisomy of sex chromosomes – 47 XXX – 47 XXY - Klinefelter Syndrome – 47 XYY Monday, July 12, 2010
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Trisomy 21 Symptoms Return to top Decreased muscle tone at birth Separated sutures (joints between the bones of the skull) Asymmetrical or odd-shaped skull Round head with flat area at the back of the head (occiput) Small skull (microcephaly) Upward slanting eyes, unusual for ethnic group
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This note was uploaded on 11/21/2011 for the course ANAT 1502 taught by Professor Johnh.romfh during the Spring '10 term at Life Chiropractic College West.

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ANAT 1502 Birth Defects - Human Birth Defects Monday, July...

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