Dysmorphology

Dysmorphology
Dysmorphology is a term coined by Dr. David W. Smith in the 1960's to describe the study of human congenital malformations (birth defects), particularly those affecting the morphology (the anatomy) of the individual. Dysmorphology literally mean, "the study of abnormal form." A pediatrician, endocrinologist, embryologist and clinical geneticist himself, David Smith (1926-1981) was the seminal figure in the development of dysmorphology as an interdisciplinary area of medicine. "As a scientific discipline, dysmorphology combines concepts, knowledge, and techniques from the fields of embryology, clinical genetics and pediatrics," Dr. Jon Aase, one of Dr. Smith's former students, has noted. "As a medical subspecialty, dysmorphology deals with people who have congenital abnormalities and with their families. Whenever any physician is confronted by a patient with a birth defect, he or she becomes, for the moment at least, a dysmorphologist." (JM Aase: Diagnostic Dysmorphology, 1990, Plenum, New York).
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General term for the study of, or the subject of, abnormal development of tissue form. A branch of clinical genetics. [dys- + G. morphe, form, + logos, study]

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dys·mor·phol·o·gy -ə-jē n, pl -gies a branch of clinical medicine concerned with human teratology

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dys·mor·phol·o·gy (dis″mor-folґə-je) [dys- + morpho- + -logy] a branch of clinical genetics concerned with the diagnosis and interpretation of patterns of the three types of structural defects—malformation, disruption, and deformation (qq.v.)

Medical dictionary. 2011.

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