congenital anatomic anomalies
TRANSCRIPT
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CONGENITAL
ANATOM ICAL ANOMALIES
OR
BIRTH DEFECTS.
PROF. DR. GHULAM SARWAR GARRANI.
HEAD OF ANATOMY DEPARTMENT
JINNAH MEDICAL AND DENTAL COLLEGE.
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BIRTH DEFECTS
Congenital Malformation; is the term used to describe the
developmental disorder present at birth. Birth defects are leadingcause of Infant Mortality , and may be Structural, Functional,Metabolic, Behavioral or Hereditary.
The causes of congenital anatomic anomalies are often divided
into:
(1)Genetic factors, such as Chromosome Anomalies
(2) Environmenal factors, such as Drugs, Viruses .
However common congenital anomalies are caused bymultifactorial Inheritance(Genetic and Environmental factorsacting together in a complex manner)
50% To 60% birth defects cause is Unknown.
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Birth defect, congenital malformation and congenital
anomalies are synominious terms use to describe
structural, behavioral, functional and metabolic
disorderspresent at birth.
The term use to describe the study of these disorders is
TERATOLOGY( teratoes : monsters).
The major structural anomalies occuring in 2 to 3% of
the new born infants and in addition to 2 to 3% are
recognized in children by the age of 5 years (for a
total of 4 to 6%)
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Birth defects are the leading cause of infant
mortality, accounting for approximately 21%
of infants death and major contributor to thedisabilities.
In 40 to 60% of persons with birth defect thecause is unknown.
Genetic factors such as chromosomal
abnormalities, mutant genes and
environmental factors.
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There are four clinically significant types of congenitalabnormalities:
(1)Malformation
(2) Disruption(3) Deformation
(4) Dysplasia
(1) Malformation
A developmental defect of organ or part of an organ, or a largerregion of the body that results from an intrinsically abnormal
developmental process. Intrinsic implies that the developmentalpotential of the primordium is abnormal from the beginning,such as chromosomal abnormality of a Gameteat fertilization.Most malformation are considered to be a defect ofdevelopmental field that responds as a coordinated unit to
embryonic interaction and results in a Complex or MultipleMalformations.
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(2) Disruption
A Morphologic defect of a part of an organ, an organ or a larger region
of the body that results from the extrinsic breakdown of, or an
interference with an originally normal developmental process. ThusMorphologic alterations after exposure to Teratogens, agents such as
Drugs and Viruses. should be considered as disruption. A Disruption
cannot be inherited but inherited factors can predispose to and influence
the development of a Disruption
(3) Deformation
An Abnormal form, shape or Position of a part of a body that results
from Mechanical forces. Intrauterine compression that results fromOligohydramnios which is insufficient amount of Amniotic fluid. It
produces an Equinovarus foot or Club Foot. Some C.N.S defects such as
Meningomyelocele, A severe type of Spina bifida produce Intrinsic
functional Disturbances that also cause Fetal Deformation.
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(4) Dysplasia
An abnormal organization of cells into (Tissues)and it morphologicresults. Dysplasia is the process and the Consequence of
Dyshistogenesis (Abnormal Tissue Formation). All abnormalities
relating to Histogenesis are therefore classified as Dysplasia
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TERATOGENS ASSOCIATED WITH HUMAN MALFORMATIONS
TERATOGEN CONGENITAL MALFORMATION.
INFECTIOUSAGENT DEFECTS.
Rubella Cataract, glucoma, heart defects deafness,tooth abnormalities
Cytomegalovirus Microcephaly, blindness, mental retardation
Herpes simplexvirus
Microopthalmia microcephaly
HIV Microcephaly, growth retardation.
Toxoplasmosis Hydrocephalous, cerebral calcification,micropthalmia.
syphilis Mental retardation, deafness.
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Valproic acid Neural tube defect, heart defects,limb anomalies.
Lithium Heart malformation.
Warfarin Chondrodysplasia, microcephalyCocain Growth retardation microcephaly
Alcohol Hypoplasia, heart defects
Lead Growth retardation, neurogicaldisorders.
Mercury Neurological symptoms.
CHEMICAL AGENTS:
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PHYSICAL AGENTS:
X-rays Microcephaly, spina bifida cleftpalate limb defects
Hyperthermia Anencephaly, spina bifida mentalretardation.
HARMONES:
Androgenicagents
Masculization of female genitalia,clitorial hypertrophy.
Maternal diabetes Heart and neural tube defects
Maternal obesity Heart defects, omphalocele.
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THANK YOU