2. INTRODUCTION
• Congenital deformities are major birth
defects of the newborns.
• Birth defects range from minor to major
defects of which many can be treated or
repaired after delivery.
• About 3% to 4% of the newborns have
major birth defects.
3. INTRODUCTION CONT’D
• Some of these birth defects may not be
discovered until when the child grows
while some of them are so visible at birth.
• Many major abnormalities can be
diagnosed before birth while others are
diagnosed after birth.
4. DEFINITION
• Congenital abnormalities are defects in
form, structure or function that are present
at and exist at birth, (Wells, 1987).
• congenital abnormalities are defects that
occur during conception, in foetal life,
and/or existing at birth characterized by
structural deformities.
5. CAUSES
• The causes of most congenital
abnormalities are unknown though certain
factors are known to increase the risk of
congenital defects.
• These include the following:
6. CAUSES CONT’D
1. Genetic or inherited - It may be
inheritance of abnormal genes from the
parents, as well as new mutations
2. Dietary deficiencies e.g. of maternal
folic acid is associated with spinabifida.
•Deprivation of materials essential for
normal development of the foetus leads to
abnormality
7. CAUSES CONT’D
3. Toxins: Ingestion of harmful substances
by the mother (e.g., alcohol, mercury, or
drugs such as anticonvulsants,
anticoagulants )
4. Severe infections such as the TORCH
infections which a mother can contract
during pregnancy can also be Teratogenic.
• Fetal organs have little resistance to infection
or toxic substances if toxic substances reach
the foetus when organs are forming
8. CAUSES CONT’D
5. Hypoxia - Constant supply of oxygen is
necessary for correct development of
the foetus.
• Any interference with the supply of
oxygen to the fetus predisposes to
abnormality.
6. Radiation - Radioactive substances have adverse
effects on pregnancy and other environmental
factors e.g. pesticides.
10. GASTROINTESTINAL
MALFORMATION
1. CLEFT LIP AND CLEFT PALATE
• Cleft lip/ palate is the most common
craniofacial malformation
• It occurs in one of 700 live births
• Cleft palate in isolation occurs in one of
2000 live births
11. CLEFT LIP AND CLEFT PALATE
CONT’D
• Cleft lip with or without cleft palate is
more common in males and cleft palate
alone is more common in females
• The condition appears more often in
native Americans and Asians
12. CLEFT LIP AND CLEFT PALATE
CONT’D
• Cleft lip- results from incomplete fusion
of the embryonic structures surrounding
the primitive oral cavity.
• It may be unilateral or bilateral
• The extent of the cleft varies greatly from
an indentation in the lip to a deep and
wide fissure extending to the nostril
13. CLEFT LIP AND CLEFT PALATE
CONT’D
• Cleft palate – occurs when primary and
secondary palatine plates fails to fuse during
embryonic development
• It may involve only the soft palate or may
extend into the hard palate
• Central palatal cleft may be accompanied by
partial or complete absence of nasal septum
resulting in communication between the nose
and oral cavity.
23. MANAGEMENT
• The most important consideration is whether
the baby is able to breastfeed or not
• Cleft lip without cleft palate does not
interfere with sucking.
• If breast feeding is impossible, then the baby
should be spoon fed
• Surgical repair may be done few days after
birth or delayed until 3 to 4 months of age
24. GASTROINTESTINAL
MALFORMATION CONT’D
2. Oesophageal Atresia
• This is the failure of the oesophagus to
form a continuous passage from the
pharynx to the stomach
•There is incomplete canalization of the
oesophagus.
26. GASTROINTESTINAL
MALFORMATION CONT’D
Clinical Manifestations
• Choking, coughing and cyanosis when
first fed as fluid aspirates from the blind
pouch in to the trachea
• If there is a distal TOF then the stomach
will become distended with air
• Thoracic and abdominal compression
(especially during crying) will cause the
gastric contents to be regurgitated
through the fistula and into the trachea
29. GASTROINTESTINAL
MALFORMATION CONT’D
• Surgical correction - anastomose the
blind ends of the oesophagus.
• A gastrostomy may need to be formed
to feed the child and prevent aspiration
of gastric contents until surgical
correction
30. GASTROINTESTINAL
MALFORMATION CONT’D
4. Duodenal atresia - There is an
obstruction in the third part of the
duodenum
Signs and symptoms
• Persistent vomiting occurs within 24-36
hours of birth.
• The vomit contains bile
34. GASTROINTESTINAL
MALFORMATION CONT’D
6. Rectal atresia and imperforate
anus - The anus is not perforated
Signs and symptoms
• No opening of bowels
Treatment
Surgery- to restore patency
36. GASTROINTESTINAL
MALFORMATION CONT’D
7. Ectopic anus:
• In females the anus may open
immediately behind the vulva, inside the
vulva, or in the vagina.
8. Exompholus: This is where the
intestines protrude into the umbilical stalk.
37. GASTROINTESTINAL
MALFORMATION CONT’D
9. Omphalocele:
• A defect in the central abdominal wall in
which organs protrude.
• The treatment is surgical reinsertion of the
intestines into the body.
10. Biliary Atresia:
• In this condition the bile duct fail to
develop or develop abnormally.
38. GASTROINTESTINAL
MALFORMATION CONT’D
11. Diaphragmatic Hernia
• This refers to the herniation of abdominal
contents into the thoracic cavity.
• It is an emergency.
Signs and symptoms
• Respiratory distress and cyanosis are
present at birth.
Management
• Surgery.
40. GENITO-URINARY TRACT
MALFORMATION
1. RENAL AGENESIS
• Congenital absence of the kidneys.
• It is associated with maternal oligohydramnios
• Potter’s syndrome consists of renal agenesis
and pulmonary hypoplasia.
41. GENITO-URINARY TRACT
MALFORMATION
2. HYPOSPADIAS AND EPISPADIAS
• Hypospadias- the urethral meatus opens
onto the inferior aspect of the penis.
Treatment is surgery.
•Epispadias- the urethral meatus opens
onto the superior aspect of the penis.
43. GENITO-URINARY TRACT
MALFORMATION CONT’D
3. Intersex or pseudohermaphrodism:
• The infant can present with the ovaries
and the uterus as well as the gonads and
the testicles.
4. Undescended testicles:
• The testicles are contained in the sac of
the peritoneum.
44. MUSCULO-SKELETAL SYSTEM
MALFORMATION
1. CONGENITAL DISLOCATION OF THE
HIP
• Unilateral or bilateral hip dislocation can
be diagnosed soon after birth using
Ortalan's or Barlow’s test.
• Management is by application of a splint
which should be adjusted weekly.
45. MUSCULO-SKELETAL SYSTEM
MALFORMATION CONT’D
2. TALIPES (CLUB FOOT)
• Clubfoot is a general term used to describe
a deformity in which the foot is twisted out
of its normal shape or position.
• Talipes can be unilateral or bilateral.
• Positional Talipes is a normal foot that has
been held in a deformed position in utero.
46. MUSCULO-SKELETAL SYSTEM
MALFORMATION CONT’D
Types of Talipes
The most common are:
1.Talipes varus - an inversion, bending
inward
2.Talipes valgus - an eversion, bending
outward
3.Talipes equinus - There is plantar
flexion, toes lower than the heel
4.Talipes Calcaneus -There is dorsiflexion,
toes higher than the heel
51. MUSCULO-SKELETAL SYSTEM
MALFORMATION CONT’D
• Most clubfeet are a combination of these
positions
• Talipes calcaneovalgus - The foot is
turned upwards and bent outwards
• Talipes equinovarus - the foot is bent
downwards and inwards.
52. MUSCULO-SKELETAL SYSTEM
MALFORMATION CONT’D
Treatment of Tallipes
• Positional Tallipes can be corrected to a
neutral position with passive manipulation.
•Parents can be shown passive exercises
• Treatment is started promptly
53. MUSCULO-SKELETAL SYSTEM
MALFORMATION CONT’D
• The correct position is obtained by
stretching and strapping or serial plaster
casts.
• Frequent cast changes are needed due to
the rapid growth of a baby.
• If the condition is severe then corrective
surgery is usually required, done at 6-9
months of age.
54. MUSCULO-SKELETAL SYSTEM
MALFORMATION CONT’D
3. ACHONDROPLASIA:
• Limbs are short because of failure to form
cartilage but the body is of normal length.
4. POLYDACTYLY
• Extra digits on hands or feet
5. SYNDACTYLY
• Fusing of digits which may be in form of
webbing between fingers and toes.
57. CARDIO VASCULAR SYSTEM
MALFORMATION
1. Transposition of the great arteries
• This is a condition where the aorta arises
from the right ventricle and the pulmonary
artery from the left ventricle thus
producing two independent circulations.
58. CARDIO VASCULAR SYSTEM
MALFORMATION CONT’D
2. Pulmonary Atresia
• It usually produces early central cyanosis
and responds well to prostaglandin
therapy to keep the duct open while
surgery is planned.
59. CARDIO VASCULAR SYSTEM
MALFORMATION CONT’D
3. Fallots tetralogy
• There is pulmonary outflow tract
obstruction, a ventricular septal defect or
right ventricular hypertrophy and an over
riding aorta.
• It does not present there and then but
produces problems a few weeks after birth
with increasing cyanosis and heart failure.
60. CARDIO VASCULAR SYSTEM
MALFORMATION CONT’D
4. Tricuspid atresia
• Usually occurs with a ventricular septal
defect or an atrial septal defect or both
allowing mixing of the circulation
5. Hypoplastic left heart syndrome:
• The whole of the left side of the heart is
under developed.
61. CARDIO VASCULAR SYSTEM
MALFORMATION CONT’D
6. Patent ductus arteriosus
• There is a hole in the membranous or
muscular part of the septum between the
ventricles or the atria which allows left to
right flow of blood through it.
7. Coactation of the aorta
• There is narrowing of the aorta where the
ductus arteriosus joins the aorta
62. CARDIO VASCULAR SYSTEM
MALFORMATION CONT’D
8. Pulmonary valve stenosis
• There is narrowing of the pulmonary valve
9. Aortic valve stenosis
• There is narrowing of the aortic valve
causing restricted blood flow from the left
ventricle into the aorta.
63. CENTRAL NERVOUS SYSTEM
MALFORMATION
1. Encephalocele:
• A tumor covered with meninges and
protrudes through the Lambdoidal suture
of the fetal skull.
• It contains brain tissue.
• It pulsates, opaque and usually has a
pedicle.
67. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
2. Microcephaly:
• The vault of the skull is small particularly
the frontal part and there is reduced
amount of brain tissue.
• The child is usually mentally retarded.
73. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
3. Anencephaly:
• It is a major malformation of the skull and brain.
• The cranial vault is missing and the cerebral
hemispheres are also missing or reduced and
attached to the skull.
• The foetus usually presents by face or breech.
• If diagnosed in early pregnancy Termination Of
Pregnancy is performed
77. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
4. MENINGOCELE
• A tumor covered with meninges and
protrudes through the Lambdoidal suture
of the fetal skull.
• The swelling contains no brain tissue but
consists of meninges and contains CSF.
80. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
• Meningocele is the herniation of the
meninges; it may be closed or open.
• It fluctuates, does not pulsate and
becomes tense when the baby cries.
• It can be managed by aspirating the
Meningocele
81. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
5. MYELOMENINGOCELE
• This is the protrusion of both the
meninges and the spinal cord and
accompanying nerve roots
• It is the most severe and most common
type of spina bifida.
82. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
Management
• There is no cure for this condition.
• Closure of the defect is performed as soon
as possible after birth to prevent infection
and further damage to the spinal cord and
roots
• skin grafting may be necessary if it is a
large defect.
• A shunt may be inserted for
hydrocephalus
83. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
6. CONGENITAL HYDROCEPHALUS
• Hydrocephalus is the condition caused by
an imbalance in the production and the
absorption of the Cerebral Spinal Fluid in
the ventricular system, (Wong, 1989).
85. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
Causes
• Structural maldevelopment of the
ventricles of the brain.
• Secondary to intracranial infection.
• Trauma in utero.
• A tumour of the choroid plexus.
86. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
Pathophysiology
• Normally, the CSF is secreted by the
choroid plexus into the ventricles of the
brain where it is absorbed into the blood.
• The fluid circulates in the ventricular
system and in the subarachnoid space of
the spinal cord.
87. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
• Any maldevelopment, intracranial, trauma
or tumours of the choroids plexus
interferes with the normal circulation of
the CSF and its absorption.
• This leads to excessive accumulation of
the CSF within the skull.
88. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
• This also causes dilatation of the
ventricles.
• When the CSF can not drain, pressure
within the brain rises leading to
enlargement of the head.
89. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
Clinical manifestation
• The anterior fontannel is wide and usually
tense.
• Bulging fontannel.
• The eyes have the sun setting sign
appearance.
90. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
• The scalp veins are dilated.
• Sutures of the skull are separated.
• Macewen sign (cracked pot sound) on
percussion.
• Thinning of the skull bones.
91. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
Investigations
• Ultrasound of the head of the infant.
• Head circumference measurements should
be measured to detect any enlargement.
• Computer tomography of the head to rule
out brain tumour.
92. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
Therapeutic management.
The aims of treatment are:
• To relieve the hydrocephalus
• To prevent complications
• To manage the problems related to the
effects of the psychomotor development.
93. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
• Treatment is by surgical removal of the
obstruction and/or insertion of shunt to
provide drainage of the CSF usually to the
peritoneum (ventriculoperitoneal shunt)
• Provide preoperative nursing care
94. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
• Support head and neck when holding child
• Skin care for head to prevent breakdown
• Small frequent feeds to prevent vomiting
• Support for family
97. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
7. SPINA BIFIDA
• Spinabifida is a condition in which part of
one or more vertebrae fails to develop
completely, leaving a portion of the spinal
cord unprotected, (Berkow, 1997).
• The contents of the column are visible and
may herniate through the defects.
101. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
Causes
• The cause is related to deficiency of folate
(folic acid) in the diet, especially during
pregnancy that causes failure of the neural
tube to close completely.
102. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
Investigations
• The diagnosis is made by observing the
clinical manifestations of the infant and
examination of the meningeal sac.
• Plain X-ray of the vertebra column to
identify the defect.
103. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
• Management of the infant requires a
multidisciplinary approach involving the
specialties of the neurologist,
neurosurgeon, pediatrician, orthopedician
and the physical therapist.
• Early closure of the skin on the affected
area is vital to prevent infection to the
meninges by employing plastic surgery.
104. CENTRAL NERVOUS SYSTEM
MALFORMATION CONT’D
• Associated problems are assessed and
managed by appropriate surgical and
supportive measures e.g. a shunt
procedure will relieve hydrocephalus,
meningitis, urinary tract infection and
pneumonia are treated with antibiotics.
• Physical therapist keeps the joints mobile
and strengthens functioning muscles.
105. CHROMOSOMAL
ABNORMALITIES
1. Down’s Syndrome (Trisomy 21)
A disorder of chromosome 21
It is the most common chromosomal
abnormality.
Aetiology
•There is an extra chromosome 21, hence
the name trisomy 21.
•The cause of the extra chromosome is
unknown but is associated with aging
maternal ovaries.
111. CHROMOSOMAL
ABNORMALITIES CONT’D
Later problems include:
• Severe learning difficulties
• Small stature
• Recurrent respiratory infections
• Hearing impairment from otitis media
• Visual impairment from cataracts,
squints
• Increased risk of leukaemia
113. CHROMOSOMAL
ABNORMALITIES CONT’D
• Prevent respiratory infections
• Ensure nutritional needs are met as
feeding is often difficult due to protruding
tongue
•Promote a normal development possible for
the individual child
114. CHROMOSOMAL
ABNORMALITIES CONT’D
2. TRISOMY 18 (Edward’s syndrome)
• This condition is found in about 1 in 5000
births
• An extra 18th chromosome is responsible for
the characteristic features
• The life span of these children is short and
the majority die during their first year
• Head is small with a flattened forehead
115. CHROMOSOMAL
ABNORMALITIES CONT’D
• Cleft palate may be present
• Ears are low set and maldeveloped
• Sternum tends to be short
• Fingers often overlap each other
• Malformation of cardiovascular and
gastrointestinal systems are common
119. CHROMOSOMAL
ABNORMALITIES CONT’D
3. TRISOMY 13 (Patau’s syndrome)
• An extra 13th chromosome leads to
multiple abnormalities
• These children have a short life
• Affected infants are small
• Microcephaly is present.
• Cleft lip and palate are common
125. CHROMOSOMAL
ABNORMALITIES CONT’D
• The genitalia is underdeveloped and the
internal reproductive organs do not
mature
• Puberty fails to occur which is when the
condition is diagnosed.
• Mental development is usually normal
130. CHROMOSOMAL
ABNORMALITIES CONT’D
Treatment
• Hormone replacement of Androgen,
Growth hormone and later progesterone
and oestrogen to induce sexual maturity
• Surgical correction of cardiovascular
malformation.
