Developmental disorder of musculoskeletal system

1. SHYAM SHAH MEDICAL COLLEGE
Presented to:
Dr. P.K Verma sir
DEPARTMENT OF ORTHOPAEDICS
TOPIC: Developmental conditions of Musculoskeletal
system
Presented by:
Ritika Jain
Roopali Sehgal
Rounak Bhandari
BATCH 2016(main)DATE: 01/10/2020

2. INTRODUCTION
•Disturbance of growth and development is called
as DYSPLASIAS.
•Dysplasias may affect the physis(epiphyseal
plate),metaphysis or diaphysis of bone and cause
various growth disorders of bone and cartilage.
•These can be classified as:
• Cartilaginous dysplasias.
• Bone dysplasias.
• Miscellaneous

3. Cartilaginous dysplasias
It is due to disturbance in chondroid formation.
A. Heterotropic proliferation of chondroblasts of
growth plate.
• Multiple exostoses
• Enchondromatosis( Ollier’s disease)
B. Abnormal maturation of chondroblasts of
growth plate.
• Achondroplasias.
• Metaphyseal dystosis.

4. C. Abnormal epiphyseal centre.
• Multiple epiphyseal centre.
• Spondyloepiphyseal dysplasia
D. Abnormal mucopolysaccharidosis,
chondro-osetodystrophy.
• Morquio-Brailsford disease.
• Hurler’s disease (Gargoylism).

5. Features:
• Characterised by: multiple, cartilage-capped bony
outgrowths from the metaphysis of long bones.
•Additional sites : flat bones such as the pelvic bone
and scapula.
• INHERITANCE: Autosomal dominant disorder.
•Most common benign bone tumour.
•Growth plate grows abnormally outwards.
•Can be sessile or pedunculated. Pedunculated contains
stalk-grows away from joint.
•Stop growing after Skeletal maturity.
MULTIPLE EXOSTOSES
(Diaphyseal Aclasis)

7. DIAGNOSIS:
X-rays typically show a ‘trumpet-shaped’
metaphysis and bony projections from it.
TREATMENT:
• The problem is of dwarfism, pressure effects of
the exostosis, deformities, and a tendency of the
exostosis to undergo malignant change. Since,
it is impractical to excise all the exostosis, the
one causing symptoms is excised.
•Osteotomy for deformities.

8. ENCHONDROMATOSIS(Ollier’sdisease)
•Enchondromatosis, also known as Ollier
disease is a non-hereditary, sporadic, skeletal
disorder characterized by
multiple enchondromas principally located in the
metaphyseal regions.
•Ollier disease is seen in both sexes without gender
predilection and usually becomes apparent by early
childhood

9. Clinical presentation :
•deformity and pain (present only during periods of
rapid growth)
•Risk of chondrosarcoma occurring later in life.
Diagnosis:
•Radiographs show multiple enchondromas. Larger
lesions can show cartilage calcification in a
typical rings and arcs pattern.

10. •.If only a few bones are involved, then little if any handicap is
present, although the affected bones do have a higher rate of
fracture.

11. ACHONDROPLASIAS
•Achondroplasia is a type of short limbed dwarfism. It
occurs when the process by which cartilage is converted
to bone, or ossification ,is stunted.
•This is most apparent in the long bones of arms and
legs.
•Achondroplasia is caused by mutations in
the FGFR3 gene.
•Inheritance is autosomal dominant. This gene
provides instructions for making a protein that is
involved in the development and maintenance of bone
and brain tissue.

12. Signs AND Symptoms
•Disproportionate dwarfism
• Shortening of the proximal limbs,trident hands present
• Large head with prominent forehead frontal bossing
• Small midface with a flattened nasal bridge
• Spinal kyphosis (convex curvature) or lordosis (concave
curvature)
• Varus (bowleg) or valgus (knock knee) deformities
• Frequent ear infections (due to Eustachian
tube blockages), sleep apnea (which can
be central or obstructive), and hydrocephalus

13. Diagnosis:
•Can be detected before birth by Prenatal ultrasound.
•Characterised by clinical results.
•Typical X-Rays findings

15. COMPLICATIONS:
•Children with achondroplasia often have less muscle tone;
so delayed walking and motor skills. It is also common for
children to have, breathing problems, ear infections, and
crowded teeth.
•Hydrocephalus is a severe effect associated with
achondroplasia in children.A shunt surgery or an endoscopic
third ventriculostomy can also be done.
•Adults with achondroplasia often face issues with obesity
and sleep apnea. It is also typical for adults to suffer from
numbness or tingling in their legs because of nerve
compression

16. TREATMENT:
•There is no permanent cure .
•Treatment is basically symptomatic.
•Regular monitoring since birth of child weight
,head circumference , height etc should be done.
•Regular MRI and CT scans are done to monitor
signs of spinal cord compression.
•Limb lengthening surgery can be done for very
small leg lengths but it is controversial.

17. METAPHYSEAL DYSOSTOSIS
•Metaphyseal dysplasia also known as Pyle disease,
metaphyseal chondrodysplasia, metaphyseal
dysostosis.
• Its hallmark feature is an abnormality of the long
bones in the arms and legs in which the ends
(metaphyses) of the bones are abnormally broad; the
shape of the bones resembles a boat oar or paddle

18. CLINICAL PRESENTATION:
•Short limb dwarfism
•Resembles rickets
•Bilateral coxa vera
• Bowed legs
•Waddling Gait
•Deformities at hip and knee joint.
SUBTYPES:
•SCHMID TYPE classical AUTOSOMAL DOMINANT
•McKUSICK Autosomal recessive
•JANSEN rare and SPORADIC

20. MULTIPLE EPIPHYSEAL
DYSPLASIAS
•Fairbank's disease or multiple epiphyseal
dysplasia (MED) is a rare genetic disorder that
affects the growing ends of bones.
•Long bones normally elongate by expansion of
cartilage in the growth plate (epiphyseal plate)
near their ends. But here it expands outward from
the growth plate, the cartilage mineralizes and
hardens to become bone .

21. Signs and symptoms
•Children experiences joint pain and fatigue after
exercising.
• A waddling gait may develop.
•hands have brachydactyly .
•Flat feet are very common.
• The spine can be normal or Scoliosis may be present.
• Signs of osteoarthritis usually begin in early adulthood.
Diagnosis:
•Radiological diagnosis is been made.
Treatment:
•physiotherapy for muscular strengthening
•Surgery may be necessary to treat misalignment of the hip
and, in some

22. •cases, malformation (e.g., genu varum or genu valgum). In
some cases, total hip replacement may be necessary.

23. SPONDYLOEPIPHYSEAL
DYSPLASIA
• A form of short-trunk dwarfism caused by a defect in the
secondary ossification center (epiphysis).
• It is caused by abnormal synthesis of Type II
collagen
– primarily affects the vertebrae and epiphysis of bone
Inheritance pattern
• autosomal dominant (SED congenita)
• X linked recessive (SED tarda)
• random mutation (50% of cases)
– Mutations COL2A1 on chromosome 12

24. • Classification Two forms of SED exist
– SED congenita
• autosomal dominant
-SED tarda
• X-linked recessive
• clinicallly less severe and does not have the lower
extremity angular deformities that are present in
the congenita form
• SYMPTOMS
• cervical myelopathy due to atlantoaxial instability
• respiratory difficulty due to respiratory
insufficiency secondary to thoracic dysplasia

25. •problems with vision due to myopia or retinal detachment
•hip pain due to coxa varus
•decreased walking distance due to poor muscular
endurance and skeletal deformities
Inspection Motion
• short stature -decreased ROM of hips
•flatened facies -waddling gait.
•kyphoscoliosis
•lumbar lordosis
•coxa vara
•genu valgum

27. C. ABNORMAL MUCOPOLYSACCHARIDASES
METABOLISM (Mucopolysaccharidosis ,condro-
osteodystropy )
• Group of lysosomal storage diseases each caused by an inherited
deficiency of an enzyme involved in the degradation of
glycosaminoglycans (mucopolysaccharides)
• all are autosomal recessive except Hunter’s syndrome (x linked)
Types:-
Hurler’s disease (gargoylism) (MPS I)
Hunter’s Morquio-brailsford disease (MPS IV)

28. HURLER’S DISEASE MPS 1
• Systemic lysosomal storage disease caused by a deficiency of
alpha-L-iduronidase .
• Characterized by progressive physical deterioration with
urinary excretion of dermatan sulfate and heparin sulfate.
• 2-3 Years (death in childhood) .
Symptoms :-
 Dwarfism,
 Hepatosplenomegaly,
 Gargoyle-like facies,
 Corneal clouding,
 Cardiac complications,
 Noisy breathing.

29. C/F:-
• Mental retarded
• Protruding tongue
• Frontal bossing
• Hyperterorism
• Hearing loss
• Poor speech
• Spatulate ribs/clavicles
• Coxa valga
• Cardio respiratory problems

30. Diagnosis:-
Newborn screening tests for MPS I .
Other tests
ECG
Genetic testing for changes to the alpha-L-iduronidase (IDUA) gene
Urine tests for extra mucopolysaccharides
X-ray of the spine
Treatment:-
•Enzyme replacement therapy. laronidase (aldurazyme), (IV, intravenously).
•Bone marrow trasplant

31. MORQUIOBRAILSFORDS
SYNDROME
Causes:-
• MPS IV is an inherited disorder (autosomal recessive).
Types:-
•Type A defect in the GALNS gene, Enzyme called N-acetylgalactosamine-6-
sulfatase.
•Type B defect in the GLB1 gene ,enzyme called beta-galactosidase.
The body needs these enzymes to break down long strands of sugar
molecules called keratan sulfate.
In both types, abnormally large amounts of glycosaminoglycans build
up in the body. This can damage organs.

32. C/F:-
• Walking delayed
• Protuberant sternum
• Hearing loss
• Face unaffected
• Genu valgum
• Odontoid hypoplasia

33. Diagnosis:-
• physical examination
• Urine tests
Other tests:-
• Blood culture
• Echocardiogram
• Genetic testing
• hearing aid
• Slit lamp eye exam
• Skin fibroblast culture
• X-rays of the long bones, ribs, and spine
• MRI of the lower skull and upper neck
Treatment :-
• Enzyme replacement,
• Gene correction.

34. Bony dysplasias
a. Deficient osteoid production.
* Osteogenesis imperfecta.
b. Excessive osteoid production.
* Osteopetrosis
* Osteopoikilosis
c. Abnormal osteoid production.
* Fibrous dysplasia
* Neurofibromatosis
* Pseudathrosis

35. Osteogenesis Imperfecta
• Also known as Brittle Bone Disease/ Fragilitis Ossium.
• Pathology: COL1A1 gene mutation
Glycine substitution
No criss cross linkage of collagen fibres
No tensile strength
Multiple Pathological/ Non-traumaticfractures

36. • Inheritance: Autosomal Dominant (or) Autosomal Recessive
• Clinical Presentation:
▪︎ Pre-school child with multiple long bone fractures
▪︎ Wormian bones may be seen in skull
• Other features: Petechial hemorrhages,
blue sclera, poor dentition
• Xray:
Osteopenia
Diaphyseal fractures
Fractures in different stages of healing
Deformity

37. Osteopenia in
distal femur
Diaphyseal fracture in
tibia, gracile bones
with thin cortex
Wormian(intersutural)
bones

38. • Management:
1. Braces: Provide external support to prevent deformity
2. Bisphosphonates
• Prognosis:
○ Autosomal recessive variety is a severe variant and may
lead to IUFD.
○ Patients with milder disease live their full life interrupted
by frequent fractures.
○ Tendency to fracture often reduces with age.

39. Osteopetrosis
• Also known as Marble Bone Disease/ Alber Schoenberg’s
Disease.
• Pathology: Defective Carbonic Anhydrase type 2
Defective osteoclastic bone resorption
Excess deposition of Normal osteoblastic bone
Bones become thick/dense/ White on Xray
Therefore, Marble Bone Disease

40. °Pancytopenia
°Hepatosplenomegaly
° Multiple infections
°Osteomyelitis of mandible
° Bleeding episodes
• Xray: ° Erlenmeyer Flask Deformity
(Flattening of distal femoral condyle)
° Endobones sign (Bone within bone)
° Rugger Jersey Spine
• Management: Bone marrow transplantation
• Prognosis: Poor
Features of
Bone
Marrow
Suppression
(due to bone
deposition)
° Usually infants affected• Clinical Presentation:

41. Erlenmeyer Flask
Deformity
Endobones
sign
Rugger Jersey
Spine
Osteopetrosis

42. Osteopoikilosis
• Rare osteosclerotic dyplastic disease
• Pathology: Multiple punctate sclerotic lesions
representing‘bony island’ or foci of compact bone located in
cancellous bone.
• Affects males and females equally
• Involves epiphysis and metaphysis
• Commonly involves: • Tubular bones of hand and foot
• Carpals
• Tarsals
• Pelvis
• Scapula

43. • Investigations:
° Xray and CT
* Multiple small radio-opacities scattered in epiphyses and
metaphysis arepathognomic.
* Bony islands clustered around joints.
* Most lesions in the appendicular skeleton and pelvis.
* Variable size (usually 5-10 cm)
° MRI
° Bone scintigraphy: To rule out metastatic disease.

44. Osteopoikilosis: Multiple small radio-opacities scattered
in epiphyses and metaphysis

45. Fibrous Dysplasia
• Sporadic disorder characterized by the presence of one
(monostotic) or more (polyostotic) expanding fibrous
skeletal lesions composed of bone-forming mesenchyme.
• Pathology: Mesenchymal cells that do not differentiate
into osteoblasts, form imperfect bone.
In some areas
Fibroblast like cells develop
features of osteoblasts in that
they produce extracellular
matrix that organize
into woven bone.
Cells have features of
chondrocytes and
produce cartilage like
extracellular matrix.

46. Clinical Presentation:
• Affects Males = Females
• Monostotic form: - Most commonly diagnosed in patients
between 20 and 30 years of age without associated skin
lesions.
• Polyostotic form:- typically manifests in children <10 years
and may progress with age.
○ Early-onset disease is generally more severe.
○ Lesions may become quiescent in puberty and
progress during pregnancy or with estrogen therapy.
○ The lesions most commonly involve the maxilla and other
craniofacial bones, ribs, and metaphyseal or diaphyseal
portions of the proximal femur or tibia.

47. • Expanding bone lesions may cause pain, deformity
fractures, and nerve entrapment.
• Production of a phosphaturic factor by the abnormal fibrous
tissue
Hypophosphatemia
Rickets orOsteomalacia
• Sarcomatous degeneration involving the facial bones or femur
is infrequent (<1%).
•
Polylyostotic formFD Café au lait spots
Pseudoprecocious puberty of ovarian origin
McCune-
Albright
Syndrome
+ Renal phosphate wasting

48. Radiographic Findings
Long bones Facial bones Expansile cranial lesions
Typically well
defined,
radiolucent areas
with thin cortices
Radiodense
lesions
Narrow foramens
Optic Nerve lesions
Ground-glass appearance leontiasis
osea
Reduced hearing and other
manifestations of cranial
nerve compression.

49. Management:
Medical therapy Surgical management
IV bisphosphonate
therapy
Surgical stabilization to prevent
pathological fractures
Improvement in bone
pain and partial or
complete resolution of
radiographic lesions
•To destroy a major joint space
•To relieve nerve root or cranial
nerve compression or sinus
obstruction.

50. Fibrous dysplasia of
proximal femur
Fibrous dysplasia of
rib
Fibrous dysplasia
of metacarpals

51. Pseudoarthrosis
1. Congenital Pseudoarthrosis ofTibia
Crawford Classification
Type 1 Anterolateral bowing of tibia = Bestprognosis
Type 2 Anterolateral bowing
Increased cortical
thickness
Narrow medullary
canal
Tubular defect
Type 3 Cystic lesion
Type 4 Presence of fracture, cyst or frank pseudarthrosis
= Worst prognosis

52. Crawford Classification

53. Type 1 Type 2 Type 3
Crawford Classification
Type 4

54. Complications:
• Length discrepancy
• Stiffness: ankle and subtalar joint
• Progressive angulation of tibia
• Ankle valgus
Surgical Management:
• Resection of pseudarthrosis
• Correction of length discrepancy and axial deformity
• Bone grafting + rigid internalfixation
• Amputation if anticipated shortening of more than 2
or 3 inches

55. 2. Congenital Pseudoarthrosis of Clavicle
• Rare condition of failure of normal ossification.
• Autosomal recessive inheritance
• Right side > Left side
Clinical features:
• Painless, prominent middle 1/3rd of clavicle
• Increases with age
• Radiograph: Osseous separation with enlarged, rounded
bone ends and no callus.
Treatment: If painful/prominent
• Pseudoarthrosis resection and bone grafting
• Arm sling for 6 weeks

56. Miscellaneous dysplasia
• NAIL-PATELLA SYNDROME.
• CLEIDO-CRANIAL DYSPLASIA.
• MARFAN’S SYNDROME
• ACCOSIATED WITH CHROMOSOMAL
ABNORMALITY
* Turner syndrome.
* Down syndrome.

57. NAIL-PATELLA SYNDROME
• A syndrome of multiple abnormalities characterized by the absence or
hypoplasia of the patella and congenital nail dystrophy.
• It is a genetically determined autosomal dominant trait.
Causes:- Mutations in the LMX1B gene

58. C/F:-
• Nail hypoplasia,
• Patella absent/small
• Congenital nephropathy
• Iliac blades have bony protuberance (horns)
• Glaucoma.

59. Diagnosis :-
• Physical examination
• Genetic testing
• Slit-lamp eye exam
• X-rays ,MRI of the KNEE
• Regular blood pressure checks , urine tests
Treatment :-
• Orthopedic problems treated with physical therapy, braces, splints,
or surgeries.
• Other symptoms such as glaucoma or high
bloodpressure (hypertension), can be treated with medications.
• may require a kidney transplant

60. CLEIDO-CRANIAL
DYSPLASIA
It is a condition characterized by defective development of the
cranial bones and by the complete or partial absence of the collar
bones (clavicles).
It is also characterized by late ossification of cranial sutures and
delayed tooth eruption.
Causes:-
• It is familial and appears as true dominant characteristic.
• Mutations CBFA1 gene located on chromosome 6p21

61. C/F :-
• Delayed closure (ossification) of skull (fontanels)
• Premature closing of the coronal suture
• Protruding jaw and protruding brow bone (frontal bossing)
• Hypertelorism
• High arched palate or
possible cleft palate
• Short stature
• Osteopenia - decreased bone density
• Oral manifestation

62. DIAGNOSIS:-
 Radiological imaging helps in confirming the diagnosis.
 Clavicles are typically reduced to single or double fragments on
each side with middle part being deficient.
Changes are asymmetric.
Large fontanelles, multiple wormian bones and underdeveloped
paranasal sinuses.

63. TREATMENT :-
• No specific treatment.
(But certain procedures can be performed around 5 years of age,
surgical correction may be necessary to prevent any worsening of the
deformity. )
• Craniofacial surgery may be necessary to correct skull defects and
dental treatment.
• In case of open fontanels, appropriate head gear may be advised by
the orthopedist for protection from injury.

64. MARFAN’S SYNDROME
It is an autosomal dominant inherited disorder of connective
tissue, characterized by loss of elastic tissue, affects
numerous body systems.
Causes:- mutations in the FBN1 gene
In 75% of patients - autosomal dominant,
In 25% of patients - mutation occurs spontaneously

65. C/F:-
• 2 cardinal features
Aortic root dilatation
Ectopia lentis.
• Tall with long legs and arms.
• Chest pectus excavatum (flat/ hollwing) .
• Digits long(spider fingers arachnodactyly) .
• Spine spondylolisthesis, scoliosis.
• Flatfeet.
• Associated: high arched palate, hernia,
lens dislocation, retinal detachment,
aortic aneurysm,
mitral/aortic incompetence, joint laxity.

66. Ectopia lentis Chest pectus excavatum

67. Turner syndrome
Turner syndrome (TS) is a chromosomal condition that describes girls
and women with common features that are caused by complete or
partial absence of the one x chromosome.
Turner syndrome is typically caused by what is called nondisjunction.
Also called as 45XO, Monosomy X ,Turner's syndrome ,Ulrich-
Turner syndrome
Types of Turner syndrome
1. X-Chromosome Monosomy
2. X-Chromosome Mosaicism
3. X-Chromosome Defects

68. • Short stature(affects almost
all girls with turner
to different degrees)
• Failure of ovaries to
develop (90-95%)
• Webbed neck (25%)
or short neck (40%)
• Abnormal fingernails
and toenails (70%)
• Low hairline at neck (40%)
• Heart defect (30%)
Symptoms :-

69. • Kidney or urinary tract defect (30%)
• Hearing disorders (50-90%)
• Frequent ear infections in childhood (75%)
• Shortening of bones in the hands (35%)
• Lower jaw smaller than normal (60%)
• Drooping eyelids (ptosis),
• wandering eyes (strabismus)
• Women with turner syndrome are more likely to develop
high blood pressure, diabetes and thyroid disorders.

70. Diagnosis:-
• Amniocentesis the prenatal diagnosis of
chromosomal abnormalities.
• Chromosome analysis:- to make a karyotype
• By the characteristic symptoms (swelling of the hands
and feet, heartdefect).
• Blood hormone levels
• Echocardiogram (heart ultrasound).
• MRI of chest.
• Ultrasound of reproductive organs and kidneys.
• Pelvic examination.

71. Treatment:-
• The best way to treat this disorder is Hormone replacement therapy.
• Hormone replacement therapy is usually started at the time of normal
puberty, around 12 years.
• Teenagers are treated with growth hormone & low doses of androgens
to help them reach a normal height and encourage hair and
muscle growth.
• Some patients may take the female hormone estrogen to promote
sexual development.
• Having appropriate medical treatment and support allows a woman
with Turner syndrome to lead a normal, healthy and happy life.

72. Down’s Syndrome
• Down syndrome also known as Trisomy 21, is a genetic
disorder caused by the presence of a third copy of
chromosome 21.
• It is typically associated with physical growth delays.
• Characteristic facial features and mild to moderate
intellectual disability.
• The average IQ of a young adult
• The parents of the affected individual are typically
genetically normal.
• most common chromosome abnormalities in humans.

73. Signs And Symptoms:-
Mental impairment
Stunted growth
Umbilical hernia
Increased skin back of neck
Low musle tone
Narrow roof of mouth
Flat head
Flexible ligaments
Proportionally large tongue
Abnormal outer ears
Flattened nose
Separation of first and second toes

74. Abnormal teeth
Slanted eyes
Shortened hands
Short neck
Obstructive sleepapnea
Bent fifth finger tip
Brushfield spotsin the iris
Single transverse palmar crease
Protruding tongue
Congenital heart disease
Strabismus
Undescended testicles
Physical appearance

75. Diagnosis:-
• Usually suspected at birth.
• Genetic testing (chromosome analysis) is done to
verify the presence of the disorder.
• The final result of such testing,with
the photographed chromosomes
paired and organized by shape
and size, is called the individual's
Karyotype.

76. Medications :- according to associated disorder
• Seizure disorder- anti-seizure medications.
• Thyroid disorder-thyroid replacement hormones.
• At this point in time, there is no medicine that will cure
down syndrome.
Physical therapy :-
 Focuses on motor development. Since most children with
down syndrome have hypotonia or low muscle tone.
 The goal of physical therapy is to teach the children with
down syndrome to move their bodies in appropriate ways,
and to improve their muscle tone.
Treatment & Therapies

77. Speech therapy:-
• Speech therapist will work with an individual
with the strength, timing and coordination of
muscle movements for speech.
• A speech-language pathologist can provide
evaluation and treatment for the speech and
language difficulties experienced by
adolescents with down syndrome.
• Help them learn to communicate clearly.

78. Occupational therapy:-
Occupational therapists focus on the child's ability
to master skills for independence.
These can include: --
Self care skills (feeding, dressing, grooming, etc.)
Fine and gross motor skills
Skills related to school performance (eg: printing,
cutting etc.)
Play and leisure skills.
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