CONGENITAL DEFORMITIES

OF
MUSCULAR
SKELETAL
SYSTEM

L. SUNEETHA,
MSC. NURSING Ist
YEAR,
SPGCON, TIRUPATHI
INTRODUCTI
ON

Congenital deformities :
A physical defect present at birth that may involve one or
many different parts of the body
Congenital deformities can be genetic
It can result from exposure of the fetus to a malforming agent
(such as alcohol), or it can be of unknown
Introduction
cont.
musculoskeletal abnormalities may involve only a single,
specific site (e.g., cleft lip, cleft palate, clubfoot) Or be part
of a syndrome of multiple congenital anomalies
 Definition
 “Deformity is an alteration in shape due to unusual pressure
and/or positioning in utero during late pregnancy. “

 “congenital disorder, also known as a congenital disease, birth

defect, or anomaly is a condition existing at or before birth
regardless of cause “
EPIDEMIOLO
GY
India.
India being the second most populous country
with a large number infant born annually with birth
defects
The prevalence of congenital deformities in new-
borns are about 2.22% in India
Overall About 3 percent to 4 percent of
babies are born with some type of birth defect
CON
T.Major birth defects
 in India include
congenital heart defects, neural tube defects
(NTDs) and Down syndrome
EPIDEMIOLOGY
CONT.
World
 WHO classification -2.4% were diagnosed as being
congenitally deformities
Total 94% of these births occur in the middle and low
income countries
According to reports of WHO , birth defects account
for 7% of all neonatal mortality and 3.3 million under five
deaths
.
Cont.
The most common system involved is
musculoskeletal system (33.2%)
 Gastro-intestinal tract (GIT(15%)
 CNS (11.2%), genitourinary (10.5%),
 Cardiovascular system (9.1%), skin (8.7%) etc
ETIOLO
GY
Most birth defects are caused by genetic or
environmental factors or a combination of the two
(multifactorial birth defects)

 However In most cases, the cause is

unknown
Cont
.
Chromosomal defects –
 Caused by few or many chromosomes, or problems in
the
structure of the chromosomes
Example includes Down syndrome (and extra copy of
chromosome 21 and sex chromosome abnormalities
(missing or extra copies of the sex chromosomes X or Y).

Single gene defects – a mutation in one gene causes the

defect.
Cont
.An environmental and others causes…
Drugs, alcohol or a disease the mother has that can
increase the chance for the baby to be born with a birth
defect
Multifactorial birth defects are caused by a combination of
genes and environmental exposures.
OTHER ENVIRONMENTAL
FACTORS
 Infectious agents
 Radiation
 Chemical agents
 Hormonal
 Maternal disease
 Hypoxia
DIAGNO
SIS genetic disorders can be detected early in pregnancy
Many
using various noninvasive and invasive techniques
Non invasive techniques
Fetal visualization includes the following non invasive
modalities like
Ultrasound
Fetal echocardiography
 MRI
Screening for neural tube defects (NTDs) involves
 CON
T. Techniques :
Invasive

 Fetal visualization techniques

include the following:
that are invasive

 Embryoscopy
 The direct examination of an embryo by insertion of a lighted
instrume
nt
Fetoscopy
Use of a fiberoptic endoscope to view the fetus and the fetal
surfa
ce of the placenta
CON
T.
Invasive fetal tissue sampling techniques include
the following:
 Amniocentesis
 Percutaneous umbilical blood sampling (PUBS)
 Percutaneous skin biopsy
 Other organ biopsies, including muscle and liver biopsy
 CON
T.
Benefits of Pre natal Diagnosis
The outcome of pregnancy and identifies possible
complications that can arise during birth

Screening can help couples determine whether to

continue the pregnancy
Congenital Limb
Defects
Congenital limb defects involve missing, incomplete or
abnormally developed limbs present at birth

 Most are due to primary intra uterine growth

inhibition

 The upper extremities are more commonly affected

Limb
Deficiencies
Limb deficiencies can be
1. Longitudinal
2. Transverse
 Longitudinal deficiencies
Involve specific maldevelopments (eg, complete or partial
absence of the radius, fibula, or tibia
 transverse deficiencies
All elements beyond a certain level are absent, and the
limb resembles an amputation stump
CONGENITAL LIMB
DEFICIENCIES
Longitudinal deficiencies
Involve specific mal developments (eg, complete or partial
absence of the radius, fibula, or tibia).
Radial ray deficiency is the most common upper-limb
deficiency, and hypoplasia of the fibula is the most common
lower-limb deficiency
MANAGEME
NT
Specific evaluation, including clinical examination and
laboratory testing, is necessary

At this time, there are many surgical approaches that can be used
for treatment of radial longitudinal deficiency

The procedures should be specifically tailored to the patient and

family to improve overall function and clinical outcome.
CON
T.Best surgical option is a rotationplasty

procedure
The procedure involves rotation of the foot 180
degrees through removal of the distal femoral and
proximal tibial epiphyses,
 The rotated foot can now act as a knee
TRANSVERSE
DEFICIENCIES
Transverse
deficiencies
All elements beyond a certain level are absent, and the
limb resembles an amputation stump
 Amniotic bands are the most common cause
The remaining cases are mostly due to underlying genetic
syndromes such chromosomal abnormalities
Cont.

Treatment
 Treatment consists mainly of prosthetic devices
Which are most valuable for lower-limb deficiencies and
for completely or almost completely absent upper limbs
Functioning capacity must be thoroughly assessed before
a prosthesis or surgical procedure is recommended
PREAXIAL
POLYDACTYLY
 Pre axial
polydactyly

 This is an extra thumb or great toe

The manifestations range from a broad or duplicated distal
phalange to complete duplication of the digit.
It may occur in isolation, possibly with autosomal
dominant
MANAGEME
NT
 Surgery is indicated to improve day to day life .
The goal of surgical reconstruction is to make a straight,
mobile, and stable thumb of good appearance in size and
shape.
It is usually performed when the baby is aged
approximately 1 year, so the effect on development and
walking is minimal.

However, parents may choose not to excise the duplicate

digit for personal reasons.
Post axial
polydactyly
Postaxial polydactyl is most common and involves
an extra digit on the ulnar/fibular side of the limb.
Most commonly, the extra finger is rudimentary, but it can
be completely developed.
CONT.
 Diagnosis by usually x-rays
 Sometimes genetic testing
Typically, x-rays are done to determine which bones are
involved
Treatment
Treatment consists mainly of prosthetic devices
Children use a prosthesis most successfully when it is
fitted early and becomes an integral part of their body and
body image during the developmental years
surgery
If the digit is better formed, surgeon can removes it by
operating when child is about 1 year old.

The surgery may involve carefully cutting through or around

bones, ligaments, muscles, tendons and other tissues to
remove the extra digit.
TALIPES EQUINO
VARUSCONGENITA
(CTEV) club foot
Club foot (CTEV)
Clubfoot is a condition in which one or both feet are
twisted into an abnormal position at birth.
 Common birth defect
Other terms Giles Smith Syndrome, congenital talipes
aquinovarus (CTEV)
 The condition is also known as talipes. It is a general
term
used to describe a range of unusual positions of the
foot.
 CTEV (club foot)-
ETIOLOGY
 The true etiology of congenital clubfoot is unknown
 Idiopathic
 Mechanical-intra uterine pressure
 Ischemia of calf muscles
 Genetic
 Secondary Paralytic disorders
 Oligohydramnios
TYP
ES
 t. calcaneoval´gus
the foot is turned outwards with the toes pointing
upwards
 t. calcaneova´rus
 the foot points inwards and up
 t. equinoval´gus
 the foot points outwards and down
CON
T.t. equinova´rus

 most common type
foot is fixed in plantar flexion (downward) and deviated
medially (inward)
CON
T.
CTEV- DIAGNOSTIC AND
CLINICAL FEATURES
 club foot deformity is readily apparent at birth
Or can be detected antenatally during the
routine Usg visit
Development ultrasound scan around 20
weeks
X-rays may be needed to confirm
diagnosis.Normally-foot dorsiflexed to touch the
chin of tibia
 Foot is smaller, in equinus, varus and
adduction..
 CTEV-
TREATMENT
Therapeutic
 Treatment is most successful when started early in infancy

Delayed treatment causes musclesand bones of legs to

develop abnormally, with shortening of tendons
Taping / french method
CTEV-
TREATMENT
Non-operative
 Manipulation
Manipulation and corrective plastergentle, manipulation of foot
with casting
 Done every few days for 1 to 2 weeks then at 1- to 2-week
Operative
 Done if nonsurgical treatment not effective
 Tight ligaments can released
Limited soft tissue released
Tendon transfers
 CTEV-
 Ctev splints
MAINTANANCE
 Denis-Brown splint
 CTEV shoes
PROGNOS
IS
· Approximately 50-60% of club feet in newborns

can be corrected non-operatively

· About 20% of infants requiring surgery need

further surgery at a later stage.
Spina Bifida
A congenital disorder in which the two halves of the
posterior vertebral arch fail to fuse at one or more levels

Spina bifida, is the incomplete development of the

brain, spinal cord, and/or meninges (the protective
covering around the brain and spinal cord).
TYPE
There are types of spina bifida:
 Occulta

 Meningocele

 Myelomeningocele
Occult
aone
 Occulta is the mildest and most common form in which
or more vertebrae are malformed.
This form of spina bifida, present in 10-20 percent of the
general population, rarely causes disability or symptoms
This condition is a result of a spinal underdevelopment

The only thing to see on the back may be a dimple, tuft

of
hair, or a red mark

Spina Bifida Occulta is rarely linked with complications or

symptoms.
Although there may be a slightly increased chance of a
slipped disc; very few people with Spina Bifida Occulta will
ever have any problems because of it.
 MENINGOCE
LE

Meningocele
Spinal fluid and meninges protrude through an abnormal
vertebral opening; the malformation contains no neural
elements and may or may not be covered by a layer of
skin.
Some patients with meningocele may have few or no
symptoms while others may experience such symptoms as
complete paralysis with bladder and bowel dysfunction.
 MYELOMENINGOC
ELE

Myelomeningocele
This is the most severe and occurs when the spinal
cord/neural elements are exposed through the opening in
the spine, resulting in partial or complete paralysis of the
parts of the body below the spinal opening.
The impairment may be so severe that the affected
individual is unable to walk and may have bladder and
bowel dysfunction.
Myelomeningocel cont.
After baby is born, surgery to repair the defect is most
often recommended within the first few days of life.
This may include special care and positioning, protective
devices, and changes in the methods of handling, feeding,
and bathing.
ETIOLO
GY
What causes spina bifida?
 The exact cause of spina bifida remains a mystery
No one knows what disrupts complete closure of the neural tube,
causing this malformation to develop
 Scientists suspect the factors that cause spina bifida are multiple:
 Genetic
 Nutritional
 Environmental factors all play a role
Cont.
Research studies indicate that insufficient intake of folic
acid—a common B vitamin—in the mother’s diet is a key
factor in causing spina bifida and other neural tube
defects.
Spina Bifida-clinical features
 SIGNS AND
SYMPTOMS
 An abnormal tuft of hair
 A collection of fat
 A small dimple or birthmark
 Muscle weakness of the legs,
 Sometimes involving paralysis
 Bowel and bladder problems
 Seizures, especially if the child requires a shunt
DIAGNO
SIS
Pre natal Diagnosis
The most common screening methods used to look for
spina bifida during pregnancy are second trimester (16-18
weeks of gestation)
 Maternal serum alpha fetoprotein (MSAFP) screening
and
fetal ultrasound.
CON
T.
The second trimester
 Multiple-marker screens
Signs of spina bifida are not evident until the second
trimester
Amniocentesis— Although amniocentesis can not reveal
the severity of spina bifida, finding high levels of AFP and
other proteins may indicate that the disorder is present.
.
Cont
.ostnatal Diagnosis
P
Mild cases of spina bifida (Occulta, closed) not diagnosed during
prenatal testing may be detected postnatally by plain film X-ray
examination

MRI or CT scan to get a clearer view of the spinal cord and

vertebrae.
 TREATME
NT
 There is no complete cure for spina bifida

 Treatment depends on the type and severity of the disorder

Generally, children with the mildest form need no treatment,

although some may require surgery as they grow
 Still, the benefits of fetal surgery are promising
Congenital dislocation of hip
(CDH)
Spontaneous dislocation of the hip occurring before, during or shortly
after birth.
CDH-
ETIOLOGY
 Not well understood

 Hereditary predisposed to joint laxity

 Breech presentation

 Hereditary faulty development of acetabulum.

CDH-CLINICAL
FEATURES
Early child hood-asymmetry of groin creases, limitation of
hip movements, click
 Older children-peculiar gait

 limitation in abduction of leg on affected Side

 Asymmetry of gluteal, popliteal, and thigh folds

CDH-
DIAGNOSIS
 Barlow’s test
 Telescopy test
X ray-shallow acetabulum, break in shenton’s line, small
head
 Ultrasound
GALEAZZI
TEST
With child in a
supine position,
the right knee
on the side of
the subluxation
appears lower
than the left
because of
malposition of
the femur head.
treatment
Therapeutic
 proper positioning: legs slightly flexed and
 abduction of legs
 Bryant’s traction
 Spica cast
 Closed reduction
Pseudarthrosis of tibia
A birth defect in the lower end of tibia in children, where a
fracture fails to unite.
Pseudarthrosis of tibia-
presentation
 Pseudarthrosis of tibia-presentation cont.

Refers to non union of a tibia fracture that develops

spontaneously or after a minor trauma.
A pseudarthrosis is defined as a “false joint” and is a break
in the bone that fails to heal on its own.
The pseudarthrosis usually develops within the first two
years of life
Pseudarthrosis of tibia-
treatment
Due to the complex and difficult nature of CPT, these
treatment strategies have had varying degrees of success.
Most of these treatments focused on stimulating the
healing process through the use of bone grafts and fixation
techniques.
Many different bone grafts and fixation methods have
been proposed
CLEFT
PALATE
 A cleft palate may just be an opening at the back of the
mouth, or it may be a split in the palate that runs all the
way to the front of the mouth.
Sometimes it can be hidden by the lining of the roof of the
mouth.
Clift lip
Cleft lip
The gap is there because parts of the baby's face didn't join
together properly during development in the womb

A cleft lip may just affect one side of the lip or there may be
two clefts

It can range from a small notch to a wide gap that reaches

the nose.
Etiology of Clift lip and Clift
palate
 Maternal smoking (especially more
than 20/day) and exposure to passive
smoke
 Drugs: Accutane, phenytoin, warfarin
 Ethanol
 Maternal folic acid deficiency
 Ingest large quantities of Vit A
 diagnosis
Cleft lips are usually picked up during the mid
pregnancy anomlie scan carried out between
18 and 21 weeks pregnancy

Not all cleft lips will be obvious on this scan and

it's very difficult to detect a cleft palate on a
routine ultrasound scan.
CON
T. main treatments are:
The
surgery
To correct a cleft lip is usually carried out at 3-6 months
and an operation to repair a cleft palate is usually
performed at 6-12 months
Monitoring hearing – babies born with cleft palates
have a
higher chance of glue ear, which may affect hearing;
How to lowerchances of having
a child with a birth defect?
How can lower chances of having a child with a birth defect?
There are many steps a woman can take to lower her
chances of having a child with a birth defect, including
 Staying healthy before and time of pregnancy
Stop smoking – Babies born to mothers who smoke tend
to be lower birth weight in addition exposure to second-
hand smoke can harm the fetus
Cont.
Vaccination Status – to assess immunity to diseases such
as rubella (German measles) that can cause miscarriage or
birth defects.
Infection screening – to determine if a woman has
sexually transmitted infection, or urinary tract
prevention
Pre conception examination
A preconception examination, also known as a
preconception visit, is one of the best ways to ensure a
healthy pregnancy
The goals are to assess your overall health and identify any
risk factors that can complicate a pregnancy
CON
T.
 Family Medical History – Assess the medical history of
family member such as high blood pressure, diabetes
or mental retardation.
Genetic Testing – Assess any possible genetic disorders
that can be passed down to child, some genetic
disorders can be detected by blood tests before
pregnancy.
 Infection or another type of infection that can be
harmful
to her or to the fetus.
NUTRITION
Eating a balanced diet before and during pregnancy is not
only good for the mother's overall health
Maintain a healthy weight–
Women who are overweight may experience medical
problems such as high blood pressure and diabetes and
women who are underweight may have babies with low
birth weight
CON
T.
 Medical management of pre-existing conditions – such as
diabetes or high blood pressure.
Folic acid – Taking 400 micrograms of folic acid each day
can help lower the risk of neural tube defects, or birth
defects of the brain and spinal cord.
 Avoid exposure to alcohol and drugs during pregnancy
Study on Prevalence of Congenital
Anomalies in Neonates and Associated
Risk Factors in a Tertiary Care Hospital in
Eastern India year 2013
During the study period, 12896 newborns were born in R. G. Kar
Medical College and Hospital during the period of September 2011 to
August 2012 institution; of which 286 had congenital malformations
The congenital anomalies affected significantly higher proportion of
male babies (2.9%) than their female counterparts (1.5%).
Musculo-skeletal system (33.2%)
gastro-intestinal (GI) system (15%)
and central nervous system (CNS)
(11.2%)
Talipes (17.1%) was the most common anomaly seen in the
musculoskeletal group and likewise cleft lip (6.6%) and cleft palate
(3.5%) in GI system and meningomyeleceole (6.3%) in CNS.
Shatanik Sarkar, Chaitali Patra, Malay Kumar Dasgupta, Kaustav
Nayek, and Prasanta Ray Karmakar1
Congenital malformations at birth in Central India:
A rural medical college hospital based data,
( Mahatma Gandhi Institute of Medical Sciences,
Sevagram, Wardha,) 1 January 2005 and 31 July 2007
Out of the total 9386 deliveries, 9194 were live births and 192
were stillbirths. The total number of babies with congenital
malformations was 179 (1.91%). Out of the 9262 births, 177
(1.05%) were malformed. Nine of the 179 malformed babies
(5.02%) were still born. Prematurity, increased maternal age,
increasing birth order and low birth weight were found to have
a higher risk of congenital anomalies.
Cardiovascular malformations were most common in live
births, followed by musculoskeletal and genitourinary
anomalies
Amar Taksande, Krishna Vilhekar,
Pushpa Chaturvedi, and Manish Jain
Nursing diagnosis
1.Risk for disproportionate growth related to congenital
disorders.
2.Impaired physical mobility related to musculoskeletal
impairment.
3.Impaired skin integrity related to musculoskeletal
impairment.
4. Disturbed body image related to developmental
changes.
5.Social isolation related to alterations in physical
appearance
Summar
y
Definition
Incidence
Clinical features
Investigations/ diagnostic
Medical management
Surgical management
References
Lewis, Dirksen, Heitkemper, Bucher, Chintamani, Mrinalini Mani, Lewis’s
Medical Surgical Nursing, Elsevier India Pvt. Ltd, 2014,2nd South Asia
Edition, page no: 1719-1731.
LeMone Pricilla and Burke Karen, Medical Surgical Nursing, Pearson
Publishers, India, 4th Edition(2008), page no:1353-1364
Joyce M Black, Jane Hokanson Hawks, Medical Surgical Nursing,
Elsevier India, 2009, 8th edition, Page no 1635-1653