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Peds path: congenital defects
definitions
6
Pathology
Professional
10/01/2009

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Term
Malformation
Definition
Morphologic defect of an organ, part of an organ, or larger region of the body resulting from INTRINSICALLY abnormal developmental process (w/in a developmental field). Ex: anencephaly
Term
Disruption
Definition
Morphologic defect resulting from EXTRINSIC breakdown of, or interference w/, normal development. Usually sporadic. Ex: ADAM complex.
Term
Deformation
Definition
Abnormal form, shape, or position of a part of the body caused by mechanical forces. In- or extrinsic! Ex: flexion deformities.
Term
Sequence
Definition
Pattern of multiple defects derived from a single anomaly. Pathogenesis- uniform. Phenotype- characteristic. Etiology- variable. Ex: Oligohydramnios sequence.
Term
Syndrome
Definition
A recognized pattern of multiple anomalies known or thought to be pathogenetically related & not a know sequence. Ex: trisomies
Term
Association
Definition
A non-random occurrence in 2 or more individuals of multiple anomalies & not a sequence or syndrome. Ex: VACTERL Assoc.
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