CONGENITAL ANATOMICAL ANOMALIES OR BIRTH DEFECTS.

PROF. DR. GHULAM SARWAR GARRANI. HEAD OF ANATOMY DEPARTMENT JINNAH MEDICAL AND DENTAL COLLEGE.

BIRTH DEFECTS
Congenital Malformation; is the term used to describe the developmental disorder present at birth. Birth defects are leading cause 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 by multifactorial Inheritance(Genetic and Environmental factors acting together in a complex manner) 50% To 60% birth defects cause is Unknown.

Birth defect, congenital malformation and congenital anomalies are synominious terms use to describe structural, behavioral, functional and metabolic disorders present 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%)

Birth defects are the leading cause of infant mortality, accounting for approximately 21% of infants death and major contributor to the disabilities. In 40 to 60% of persons with birth defect the cause is unknown. Genetic factors such as chromosomal abnormalities, mutant genes and environmental factors.

There are four clinically significant types of congenital abnormalities: (1)Malformation (2) Disruption (3) Deformation (4) Dysplasia (1) Malformation A developmental defect of organ or part of an organ, or a larger region of the body that results from an intrinsically abnormal developmental process. Intrinsic implies that the developmental potential of the primordium is abnormal from the beginning, such as chromosomal abnormality of a Gamete at fertilization. Most malformation are considered to be a defect of developmental field that responds as a coordinated unit to embryonic interaction and results in a Complex or Multiple Malformations.

(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. Thus Morphologic 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 from Oligohydramnios 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.

(4) Dysplasia
An abnormal organization of cells into (Tissues) and it morphologic results. Dysplasia is the process and the Consequence of Dyshistogenesis (Abnormal Tissue Formation). All abnormalities relating to Histogenesis are therefore classified as Dysplasia

TERATOGENS ASSOCIATED WITH HUMAN MALFORMATIONS

TERATOGEN
INFECTIOUS AGENT Rubella

CONGENITAL MALFORMATION. DEFECTS.

Cataract, glucoma, heart defects deafness, tooth abnormalities

Cytomegalovirus
Herpes simplex virus

Microcephaly, blindness, mental retardation

Microopthalmia microcephaly

HIV
Toxoplasmosis syphilis

Microcephaly, growth retardation.

Hydrocephalous, cerebral calcification, micropthalmia. Mental retardation, deafness.

CHEMICAL AGENTS:
Valproic acid Neural tube defect, heart defects, limb anomalies. Heart malformation. Chondrodysplasia, microcephaly Growth retardation microcephaly Hypoplasia, heart defects Growth retardation, neurogical disorders. Neurological symptoms.

Lithium
Warfarin Cocain Alcohol Lead Mercury

PHYSICAL AGENTS:
X-rays Microcephaly, spina bifida cleft palate limb defects

Hyperthermia

Anencephaly, spina bifida mental retardation.

HARMONES:
Androgenic Masculization of female genitalia, agents clitorial hypertrophy. Maternal diabetes Heart and neural tube defects Maternal obesity Heart defects, omphalocele.

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