embryology birth defect very important lecture and i wash to intersted with it

1. Birth Defects
Ass.Prof.Dr. Saleh Nasser S. A. Alkardae
Lecturer of Human Anatomy & Embryology
Chairman of Anatomy & Embryology
Department, TUFOM_GUSTFOM

3. DEFINITION
The word "congenital" means "at birth."
"Anomaly“ comes from the Greek word
"anomalos" meaning "uneven" or "irregular.“
(Something that is unusual or different at birth. )
A congenital abnormality is any defect in form,
structure or function.
Birth defect, congenital malformation, and
congenital anomaly are synonymous terms
used to describe structural, behavioral, functional,
and metabolic disorders present at birth. Terms
used to describe the study of these disorders are
teratology (Gr. teratos; monster) and
dysmorphology.

5. Most birth defects fall into this last category and
for most o f these congenital malformations,
details of their origin are unknown.

7. Malformations
It occur during formation of structures,
for example, during organogenesis.
They may result in complete or partial
absence of a structure or in alterations of
its normal configuration. Malformations
are caused by environmental and/or
genetic factors acting independently or
in concert.
Types of Abnormalities

9. Disruptions
result in morphological alterations of
already formed structures and are
caused by destructive processes.
Vascular accidents leading to
transverse limb defects and defects
produced by amniotic bands are
examples of destructive factors that
produce disruptions .

10. Cleft Lip/Cleft Palate
◼ Can affect anyone
◼ Appears at birth
◼ Congenital
malformation –
Multi-factorial
◼ Two sides of lip
and/or pallet not
joined
◼ Treatment -
surgery

12. Deformations
It result from mechanical forces that
mold a part of the fetus over a
prolonged period. Clubfeet, for
example, are caused by compression
in the amniotic cavity.
Deformations often involve the
musculoskeletal system and may be
reversible postnatally.

13. talipes
equinovarus
deformity

14. Clubfoot
◼ Affects anyone
◼ Appears at birth
◼ Congenital
malformation –
Multi-factorial
◼ Foot and ankle
twisted, making it
impossible to walk
normally
◼ Treatment -
surgery

15. A syndrome is a group of
anomalies occurring together that
have a specific common cause.
This term indicates that a
diagnosis has been made and that
the risk o f recurrence is known.

16. Down’s Syndrome
◼ Common if baby has
young or old parents
◼ Appears at birth
◼ Chromosomal erroran
extra copy of chromosome
21.
◼ Effects – Some form of
mental retardation, oval
shaped eyes, thick big
tongue, short neck, back
of head is flat, small ears,
common heart problems
◼ Surgery, special
assistance

17. In contrast, association is the nonrandom
appearance o f two or more anomalies that
occur together more frequency than by chance
alone, but the cause has not been determined.
An example is the VACTERL association
(vertebral, anal, cardiac, tracheoesophageal,
renal, and limb anomalies). Although they do
not constitute a diagnosis, associations are
important because recognition of one or more
o f the components promotes the search for
others in the group

25. Muscular Dystrophy
◼ Affects – anyone
◼ Appears in childhood
and adulthood
◼ Multi-factorial, sex –
linked
◼ Weakening of
muscles. Inability to
walk, move, wasting
away and sometimes
death
◼ No treatment

27. Environmental Factors
Until the early 1940s, it was assumed that congenital
defects were caused primarily by hereditary factors.
With the discovery that rubella (Germán measles)
affecting a mother during early pregnancy caused
abnormalities in the embryo, it suddenly became
evident that congenital malformations in humans
could also be caused by environmental factors. In
1961, observations by W. Lenz linked limb defects to
the sedative thalidomide and made it clear that drugs
could also cross the placenta and produce birth
defects (Fig). Since that time, many agents have been
identified as teratogens (factors that cause birth
defects).

30. Cerebral Palsy
◼ Affects anyone
◼ Appears at birth
◼ Prenatal damage
◼ Damage of one or
more parts of the
brain that control
movement. Lack of
control of movement
and posture.
◼ Special medication,
physical therapy

33. Fetal Alcohol Syndrome
◼ Affected if mom drank
alcohol while pregnant
◼ Appears at birth
◼ Prenatal
◼ Some form of mental
retardation, facial
abnormalities, deformed
limbs
◼ Special assistance

34. FAS

44. PKU
◼ Affects anyone
◼ Appears at birth
◼ Recessive disorder
◼ Abnormal digestion
of protein, mental
retardation,
hyperactivity
◼ Preventable diet

45. Spina Bifida
◼ Affects anyone
◼ Appears at birth
◼ Multi-factorial, Prenatal damage
◼ Varying degrees from slight
cyst to open spine (sores,
infertile, legs paralyzed, poor
bladder and bowel control,
death)
◼ Surgery and physical therapy

46. Sickle Cell Anemia
◼ Affects primarily
blacks
◼ Appears at birth
◼ Recessive disorder,
blood disorder
◼ Abnormal blood cells,
bout of pain, heart
and kidney failure,
less oxygen to all
parts of the body.
Death in childhood.
Damage to adult vital
organs.
◼ Blood transfusions

47. Environmental Factors influencing
birth defects

48. Long-term Effect of Meth
Chemicals
◼ Change in genetic
code
◼ Down line birth
defects
◼ Agents causing
fetal deaths
◼ Reproduction
toxins
◼ Long term
carcinogens

50. Preventing Birth Defects
◼ Eat well during pregnancy
◼ Avoid marrying close relatives
◼ Consider not having children after age 35
or 40
◼ Avoid all medicines during pregnancy
◼ Avoid contact with pesticides and other
poisons
◼ Avoid tobacco and alcohol
◼ While pregnant, stay away from children
with German measles