BIRTH DEFECT

NAJAF MUKHTAR
HIRA ASGHAR
AYESHA JILLANI
MARYAM KHALID
SUMAYYA ASAD
LARAIB MUMTAZ
WASIA ABID
DEFINATION
TERATOLOGY
 Study of abnormal development.
DYSMORPHOLOGY:
 Study of abnormal forms.
 CONGENIOTAL: at birth
CAUSES
Genetic. (10%-15%)
Environmental. (10%)
MINOR ANOMILITY

 Minor anomalies are unusual external physical features which do not inhibit
a major function of the body.
 Example
 Microtia
 Pigmented spots
 Short palpaberal fissures
 Trisomy 21
 MAJOR ANOMALY

 Anomaly that has medical, surgical or cosmetic significance.

 More chances of mordality and mortility.
 Example:
 Polydactyl
 cleft palate
 TYPES OF ABNORMALITIES

 MALFORMATION
A physical defect present in a baby at birth that can involve many different parts of the body.
 NIDS: neural tube defects
 Syndactly: fusion of fingers

Any type of insult during formation

Examples:
heart defects, cleft lip and palate, spina bifida, limb defect.
DISRUPTION

 Morphological change in already formed structure.

 Structures dissolved or distorted.
 Example
Intestinal atresia.
Amniotic band disruption.
Vascular accidents: Vessel thickens, low blood supply.
 DEFORMATION
Abnormal mechanical force on normal fetus.
Amniotic fluid resist friction so baby moves in fetus.
TALIPES EQUINOVIRUS
Also known as club foot.(frog like)
Foot abducted, dislocation of hip.
TREATMENT
1. 40days pop
2. Exercise
DYSPLASIA
.
 Error of morphogenesis due to abnormal cellular organization of function in
a specific type of tissue .
 ACHONDROPLASIA
 A disorder of bone growth that prevents the
changing of cartilage to bone.
It is characterized by
 Dwarfism
 Limited range of motion at the elbows
 Macrocephaly small fingers
 Normal intelligence.
ECTODERMAL DYSPLASIA

Are genetics disorders affecting the development or

function.
 Skin
 Sweat glands
 Hair
 Nails
 Teeth
 Mucous membranes
OSTEOGENESIS IMPERFECTA

 A group of genetic disorders that mainly affect the bones.

 It results in bones that break easily.
 The severity may be mild to Moderate.
 Weak muscle, brittle teeth, and hearing loss.
SYNDROME

 A group of symptoms which consistently occur together, or a

condition characterized by a set of associated symptoms.
 Greek meaning “running together”
 DOWN SYNDROME
Caused by trisomy 21.
The person has three copies of chromosome 21, instead of the
usual two copies.
 Decreased or poor muscle tone.
 Short neck, with excess skin at the back of the neck.
 Flattened facial profile and nose.
 Small head, ears, and mouth.
 Upward slanting eyes, often with a skin fold that comes out from
the upper eyelid and covers the inner corner of the eye.
ENVIRONMENTAL FACTORS

INFECTIOUS AGENTS
RUBELLA(GERMAN MEASLES)
causes
 rubella virus
 CRS
 SYMPTOMS

 Rash on face
 Low grade fever
 Headache
 Joint pain
 Myocardial damage
 Vascular abnormalities
 Mental retardation
Herpes SIMPLEX VIRUS
CAUSE
 DNA virus
SYMPTOMS
 Herpes simplex virus typically appear as a blister or as multiple blisters on
or around affected areas ,usually the mouth, genitals, or rectum.
 The blisters break, leaving tender sores.
 brain damage
 breathing problems
 seizures

 TREATMENT
Antiviral drugs
CYTOMEGALOVIRUS

 Often fatal early.

SYMPTOMS
 disability at birth
 Microcephaly
 Kernicterus
 Hepatosplenomegaly
 Cerebral calcification
varicella
 varicella zoster virus (VZV)
 skin rash that forms small, itchy blisters. It usually starts on the chest, back,
and face
 If chickenpox during pregnancy, risk of complications such as pneumonia.
 Risk in first trimester
 Skeletal anomalies
 Mental retardation
 Muscle atrophy
HIV/AIDS

 A baby can become infected with HIV in the womb during delivery.
 If the mother does not receive treatment, 25 percent of babies born to
women with HIV will be infected by the virus.
 With treatment that percentage can be reduced to less than 2 percent.
 Blood genital secretions
 Microcephaly
 Growth retardation
 Abnormal expression or appearances
TOXOPLASMOSIS

 Toxoplasma gondii parasite

 Infection occurs by eating undercooked
 contaminated meat, exposure from infected cat feces.
 miscarriage
 stillbirth.
 Hearing loss
 Mental retardation
 microcephaly
SYPHILIS

 Congenital deafness
 Mental retardation
 Diffuse fibrosis of organs
 Pus production(pyrogenic)
2- RADIATION

 growth retardation
 malformations
 impaired brain function
 cancer
 Blindness cleft palate
 Extremity defects
3- CHEMICAL AGENTS/DRUGS

THALIDOMIDE
 stunted or malformed limbs
 blocks growth of new blood vessels
 Cardiac abnormalities
 Taken for treatment of nausea in pregnant women
Anticonvulsant
DIPHENYLHYDANTOIN
 Injure the baby
 Increase risk of miscarriage or stillbirth.
 Nail and digital hypoplasia
 Mental deficiency
VALPROIC ACID
 Neural tube defect
 Heart defect
 Craniofacial and limb anomalies
TRIMETHADIONE

 Malformed ears
 Cleft palate
 Cardiac defects
 Urogenital abnormalities
 Skeletal anomalies
Alcohol

 Fetal alcohol syndrome

 Craniofacial abnormalities
 Limb deformaties
 Cardiovascular defects
 Mental retardation
 Growth defficiency
 4- Harmones

 Androgenic agents
to prevent abortion
 Ethisterone and norethisterone
 DIETHYLSTILBESTEROL
Increase incidence of vaginal and cervical cancer in women
ORAL CONTRACEPTIVES
low teratogenic potential, discontinue if pregnancy suspected
CORTISONE-CLEFT PALATE in mice(not humans)
5- MATERNAL DISEASE

 Disturbance in CHO metabolism(diabetic mother)

Stillbirths, neonatal death
Abnormality large infants
Congenital malformations
 Cardiac,skeletal anomalies
 Caudal disgenesis
PHENYLKETONURIA

 Phenylalanine is deficient
 More PA concenteration
 Mental retardation
 microcephaly
 B- ENVIRONMENTAL CHEMICALS

 MERCURY
Multiple neurological symptoms
 LEAD
Increase abortions
growth retardation
neurological disorders
PREVENTION OF BIRTH DEFECT

 Good parental care

 Iodine supplementation(prevent cretinism)
 Folate/Folic acid supplementation(dec. neural tube defects)
 Avoidance of alcohol(dec. incidence of birth defects)