CONGENITAL ANOMALIES

OF MUSCULOSKELETAL

Humaryanto
FKIK Universitas Jambi
 CONGENİTAL ANOMALİES

• Physical variations those

disorganize physical appearance
and function
• Can be
• in a single part of extremity
• in one extremity
• multiple
• combined with severeal anomalies
 CONGENİTAL ANOMALİES

• Etiology
• Genetic
• Single gene pathology
• Multiple genes pathologies
• Chromosomal anomalies
• Non-genetic
• Teratogenic
• İdiopathic
 CONGENITAL ANOMALIES

• A. Approximately two percent of all newborns have

congenital anomalies (birth defects).
• a. 65% of congenital anomalies are idiopathic (unknown
cause)
• b. 20% are genetic
• c. 5% are chromosomal
• d. 10% are environmental (maternal radiation, infection,
drugs, alcohol, medications
 CONGENİTAL ANOMALİES

• Classification

• Interruption of development
(Facomelia, Aphalangea)
• Separation deficit
• Duplication
• Overgrowth
• Hypoplasia
• Constructive band syndrome
• Generalized skeletal anomalies

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 CONGENİTAL ANOMALİES

• Classification

• Interruption of development
• Separation deficit (Syndactyly)
• Duplication
• Overgrowth
• Hypoplasia
• Constructive band syndrome
• Generalized skeletal anomalies

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 CONGENİTAL ANOMALİES

• Classification

• Interruption of development
• Separation deficit
• Duplication (Polydactyly)
• Overgrowth
• Hypoplasia
• Constructive band syndrome
• Generalized skeletal anomalies

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 CONGENİTAL ANOMALİES

• Classification

• Interruption of development
• Separation deficit
• Duplication
• Overgrowth (Macrodactyly)
• Hypoplasia
• Constructive band syndrome
• Generalized skeletal anomalies

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 CONGENİTAL ANOMALİES

• Classification

• Interruption of development
• Separation deficit
• Duplication
• Overgrowth
• Hypoplasia (Phalangeal hypoplasia)
• Constructive band syndrome
• Generalized skeletal anomalies

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 CONGENİTAL ANOMALİES

• Classification

• Interruption of development
• Separation deficit
• Duplication
• Overgrowth
• Hypoplasia
• Constructive band syndrome
• Generalized skeletal anomalies

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 CONGENİTAL ANOMALİES

• Classification

• Interruption of development
• Separation deficit
• Duplication
• Overgrowth
• Hypoplasia
• Constructive band syndrome
• Generalized skeletal anomalies
(Arthrogryposis multiplex congenita)

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 CONGENİTAL ANOMALİES

• Treatment

• Controversies about timing of treatment

• Before the recognition of upper extremity
• Before walking for the lower extremity
• Treatment modalities
• Reconstructions (esp. in upper extr.)
• Deformity correction and extremity lengthening
• Amputations
 TORTİCOLLİS

• Sternocleidomastoid (SCM) muscle

spasm or contracture
• Congenital or acquired
• Association with DDH
• Before 1st year of life –
conservative
• After 1st year – surgical release

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 RADİAL CLUB HAND

• Partial or total absence of

radius
• Associated congenital cardiac
pathologies, abdominal
pathologies and haematologic
diseases
• Surgical reconstruction after 6
months of age
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 MADELUNG DEFORMİTY

• Unknown etiology (may be

developmental)
• Undergrowth of distal radial
epiphysis
• Ulnar deviation of the wrist
• Corrective osteotomies and
reconstruction

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 SYNDACTYLY

• Partial – Total
• Simple – Complex
• Surgery for hands
• Observation for foot

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 POLYDACTYLY

• Preaxial, postaxial, central

• Surgery for both hands and
feet

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 MACRODACTYLY

• Can be associated with vascular

anomalies or neurofibromatosis
• Severe functional and cosmetic
problems
• Reconstruction or amputation

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 CLEFT HAND – CLEFT FOOT

• Absence of central ray of hand

or foot
• Reconstructive surgeries

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 TRİGGER FİNGER

• Developmental
• Frequently in thumb
• Surgical release of A1 pulley

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LOWER EXTREMİTY LONG BONE DEFİCİENCİES

• Proximal focal femoral deficiency

• Tibial hemimelia
• Fibular hemimelia

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 DEVELOPMENTAL DYSPLASIA OF
HIP

• Definition: the head of the femur is improperly seated in the acetabulum of the pelvis.
• Congenital or developmental
• Varying in degree

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 CLUBFOOT (PES EQUİNOVARUS)

• Most common congenital foot

deformity
• Early diagnosis and treatment are
very important
• Conservative treatment – GOLD
standard
• Corrective manipulation and serial
casting

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 VERTİCAL TALUS

• Rigid pes planovalgus

• Can be associated with
syndromes
• Surgical correction in early
ages is necessary

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 POSTURAL FOOT DEFORMİTİES

• Metatarsus adductus
• Calcaneovalgus

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 OSTEOGENESIS IMPERFECTA

• Brittle bone disease

• genetic disorder
• Characterized by fragile bones that
break easily.
• Affects both bone quality and bone
mass.
• Other health issues frequently seen in
children with OI:
– Short stature
– Weak tissues, fragile skin, muscle
weakness, and loose joints
– Bleeding, easy bruising, frequent
nosebleeds
– Hearing loss
– Breathing problems
– Curvature of the spine
 TYPES OF OI

• 8 types
• OI types range from a mild form with no
deformity, normal stature and few fractures
to a form that is lethal during the perinatal
period (prior to and after birth).
• Medical problems a person will depend on
the type of OI
• OI varies greatly from person to person,
even among people with the same type of
OI, even within the same family
 TYPE I

• mildest and most common form

• 50% of the total OI population
• mild bone fragility
• relatively few fractures
• minimal limb deformities
• child might not fracture until he or she is learning to walk.
• Shoulders and elbow dislocations may occur more frequently than in healthy
children
• Some children have few obvious signs of OI or fractures while others experience
multiple fractures of the long bones, compression fractures of the vertebrae, and
chronic pain.
• Appear healthy yet need to accommodate for bone fragility
 TREATMENT

• There is no cure for OI.

• Treatment goals
– Minimize fractures
– Maximize independent function and general health
• Treatments
– Physical therapy and safe exercise
– Casts, splints or wraps for broken bones;
– Braces to support legs, ankles, knees and wrists as
needed
– Orthopedic surgery
– Medications to strengthen bones
– Mobility aids
• Disease most
associated with human
dwarfism

• Occurs in 1 / 15,000 –
17,000 people

• Caused by a
missense mutation
 ACHONDROPLASIA

• Achondroplasia literally means “without cartilage

formation.”
• Presents clinically as a long narrow trunk with short
extremities, large head with frontal bossing,
hypoplasia of the midface, and trident configuration of
the hands.
• An autosomal dominant disorder; a majority of cases
are sporadic, the result of a de novo mutation.
• A de novo mutation is a new mutation that occurs in a
germ cell and is then passed on to an offspring.
 FGFR3 GENE

• The gene affected is the Fibroblast Growth Factor

Receptor 3 gene, of FGFR3.
• FGFR3 is located on chromosome 4, 4p16.3
 MUSCULAR DYSTROPHY
(MD)

Description: group of genetically inherited diseases characterized by

degeneration of muscles; most common type is Duchenne’s MD.
Etiology: genetic
Manifestations:
• onset usually between ages of two to five years
• pelvic and leg muscles usually affected first
o leads to characteristic waddling gait
o toe walking
o lordosis
o Gower’s maneuver (unusual way of getting up from squatting position due
to weakened pelvic muscles)
o bulking of muscle mass (esp. gastrocnemius) due to fat and connective
tissue deposits
M.D.
 MUSCULAR DYSTROPHY
(MD)

• Diagnosis:
• Physical exam, muscle biopsy, electromyography
• Prognosis:
• • no cure for MD—physical therapy, leg braces are
effective in maintaining mobility and quality of life
• • affected children usually confined to wheelchair by
age nine
• • life expectancy usually in late teens or early
twenties
• • death due to respiratory or cardiac complications
 OTHERS…

• Constructive band syndrome

• Arthrogryposis multiplex congenita
• Freeman-Sheldon syndrome
• Hold-Oram syndrome
• Poland syndrome
• Down syndrome
• Marfan syndrome
• Neurofibromatosis

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 OTHERS…

• Constructive band syndrome

• Arthrogryposis multiplex congenita
• Freeman-Sheldon syndrome
• Hold-Oram syndrome
• Poland syndrome
• Down syndrome
• Marfan syndrome
• Neurofibromatosis

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 OTHERS…

• Constructive band syndrome

• Arthrogryposis multiplex congenita
• Freeman-Sheldon syndrome
• Hold-Oram syndrome
• Poland syndrome
• Down syndrome
• Marfan syndrome
• Neurofibromatosis

42
 OTHERS…

• Constructive band syndrome

• Arthrogryposis multiplex congenita
• Freeman-Sheldon syndrome
• Hold-Oram syndrome
• Poland syndrome
• Down syndrome
• Marfan syndrome
• Neurofibromatosis

43
 OTHERS…

• Constructive band syndrome

• Arthrogryposis multiplex congenita
• Freeman-Sheldon syndrome
• Hold-Oram syndrome
• Poland syndrome
• Down syndrome
• Marfan syndrome
• Neurofibromatosis

44
 OTHERS…

• Constructive band syndrome

• Arthrogryposis multiplex congenita
• Freeman-Sheldon syndrome
• Hold-Oram syndrome
• Poland syndrome
• Down syndrome
• Marfan syndrome
• Neurofibromatosis

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 OTHERS…

• Constructive band syndrome

• Arthrogryposis multiplex congenita
• Freeman-Sheldon syndrome
• Hold-Oram syndrome
• Poland syndrome
• Down syndrome
• Marfan syndrome
• Neurofibromatosis

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 OTHERS…

• Constructive band syndrome

• Arthrogryposis multiplex congenita
• Freeman-Sheldon syndrome
• Hold-Oram syndrome
• Poland syndrome
• Down syndrome
• Marfan syndrome
• Neurofibromatosis

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 YOU SHOULD REMEMBER …

• Classification of congenital anomalies

• Definition of most common deformities
• Torticollis
• Syndactyly, polidactyly, macrodactyly
• Cleft Hand
• Clubfoot (PEV)
• Dysplasia of devcelompental hip (DDH)

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THANK YOU …