Pathology 3240A Lecture Notes - Lecture 20: Secondary Sex Characteristic, Fetal Alcohol Spectrum Disorder, Potter Sequence

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Determined by genes result from intrinsically abnormal development process. Deformations result from mechanical forces (small uterus, large fetus, oligohydramnios - compression of fetus). Disruptions result from break down of a normal development process. Example: limb amputation due to an amniotic band. A syndrome is a characteristic association of several anomalies. Potter syndrome is an example of both malformations and deformations. The basic defect is absent or abnormal kidney development, resulting in decreased amniotic fluid (oligohydramnios) and compression of the fetus. These lead to abnormal development of the lung (pulmonary hypoplasia) and death due to respiratory insufficiency. The fetal compression also produces abnormal facies and abnormal positioning of hands and feet. Teratogens are agents that produce congenital malformations: congenital infections: Maternal rubella occurring in the first trimester will cause fetal malformations. In a child or adult, rubella is a mild disease with fever and a transient skin rash.

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