TEXTBOOK READING

Appley‘s System of Orthopaedics and Fractures

BACKGROUND
GENETIC ORDER
 Human  46 chromosomes : 44
(the autosomes) are disposed in
22 homologous pairs (alleles –
paternal & maternal). The
remaining two : the sex
chromosomes (Female : 2 X,
Male : X & Y).
 The 46 chromosomes  a single
molecule of DNA  Genes.
 Genes  inherited biological
informations  to develop,
differentiate and function in
spesialized ways.
BACKGROUND OF DISORDERS

 Various anomalities may also result from

injury to the formed embryo 
musculoskeletal system
 Anomalities can be caused by
1. Genetic Disorders
2. Non-Genetic Disorders
1. GENETIC DISORDERS

 Any serious disturbance of

either the quantity or the
arranggement of genetic
material may result in
disease
 Classified into three
categories :
1. Chromosome Disorders
2. Single Gene Disorders
3. Polygenic or
Multifactorial Disorders
1. GENETIC DISORDERS

1. Chromosomes Disorders
• Additions, deletions & changes in chromosomal
structure
• Affected fetuses are either still-born or become infants
with severe physical & mental abnormalities.
• A few chromosomes disorders have signifant
orthopaedic abnormalities
Down Syndrome : one extra chromosome 21 (Trisomy
21)
Turner’s Syndrome : one of the X chromosomes is
lacking (Monosomy X)
Klinefelter’s Syndrome : one Y but X chromosomes
1. GENETIC DISORDERS

2. Single Gene Disorders

• Gene mutation : insertion, deletion, substitution or
fusion of amino acids or nucleotides in the DNA
chain.
• Consequences for cartilage growth, collagen structure,
matrix patterning, marrow cell metabolism.
• The abnormality is then passed to future generations
according to simple mendelian rules.
• There are literally thousands of single gene disorders
 over 5% of child deaths
• Rarely to see in orthopaedic practice.
1. GENETIC DISORDERS

3. Polygenic or Multifactorial Disorders

• Have a polygenic background
• Occur only when a genetic predisposition
+ an appropiate enviromental ‘trigger’
2. NON GENETIC DISORDERS
 Abnormalities  sporadically and have no genetic background
 Unknown aetiology but some have been linked to specific
teratonic agents  damage the embryo or the placenta during
the first few months of gestations
- Viral infection : Rubella
- Certain drugs : Thalidomide
- Ionizing radiation.
 Clinical features : Asymmetrical & localized, ranging from
mild morphological defects to severe malformations such as
spina bifida or phocomelia (congenital amputations)
PATTERNS OF INHERITANCE

 The single gene disorders  characteristic

patterns of inheritance
1. Autosomal Dominant Disorders
2. Autosomal Recessive Disorders
3. X-Linked Disorders
PATTERNS OF INHERITANCE

Autosomal Dominant Disorders

 Inherited even if only one of a pair of alleles on a non-sex
chromosome is abnormal (heterozygous)
 Sometimes both parents appear to be normal  the patient may
be the first member of the family to suffer the effect mutant gene
 A typical example : hereditary multiple exostoses
 As often happen, the disease shows variable expressivity. Some 
developing many large exostoses & severe bone deformities.
Others  have only a few small and well-disguised nodules.
PATTERNS OF INHERITANCE

Autosomal Recessive Disordes

 Appear only when both alleles of a pair are
abnormal (homozygous)
 Each parent contributes a faulty gene. If both are
heterozygous they themselves will be clinically
normal.
 Theoretically, one in four of children 
homozygous  develop the disease. Two out of
four  heterozygous carriers of the faulty gene
PATTERNS OF INHERITANCE

X-Linked Disorders
 Caused by a faulty gene in the X chromosome
 Characteristic, never pass directly from father to son
because father’s X chromosome inevitably goes to the
daugther and the the father’s Y to the son.
 Pass from an affected mother to half of her daugthers
and half of her sons or from an affected father to all of
his daugthers but none of his sons.
 Example : Haemofilia
IN-BREEDING

 All types of genetic disease are more likely

to occur in the children of consaguineous
marriages or in closed communities where
many people are related to each other.
 Seen in their circumstances an increased
risk of a homozygous pairing between two
heterozygous carriers.
GENETIC HETEROGENICITY

 The same phenotype can result from widely

different gene mutations
 Example : Osteogenesis imperfecta
 Some showing autosomal dominant, some
autosomal recessive inheritance
 Phenotype, the recessive form is usually the
more severe.
GENETIC MARKERS

 Many common disorders show an unusually close

association with certain blood groups, tissue types or
other serum proteins.
 They arise from gene sequences that do not cause the
disease but either linked to other (abnormal) or express
some factor that predisposes the individual to a harmful
environment agent
 Example : Ankylosing Spondylitis
Over 90% patients  60% of their first degree relatives
are postive for HLA-B27
GENE MAPPING

 With advance recombinant DNA technology,

the genetic disorders are gradually being
mapped to specific loci.
 The mutant gene has been cloned, hold out
the possibility of replacing flawed genes
with correctly functioning versions
PRENATAL DIAGNOSIS

 Can be diagnosed before birth  improving the chances of

treatment or, at worst giving the parents the choice of
selective abortion.
 USG / Amniocentesis / Chorionic Villus Sampling with
indications :
1. Maternal age over 35 years
2. A previous history of chromosomal / genetic abnormalities
/ inborn error of metabolism
3. To confirm non-invasie test suggesting an abnormality
MATERNAL SCREENING

 Alpha-fetoprotein (AFP)
 Woman with positive blood test  further investigation by
amniocentesis
 Low level of AFP  Down’s syndrome

Amniocentesis
 About 20ml is withdrawn from the amniotic sac (with needle /
syringe under local anesthesia)
 14th – 18th weeks of pregnancy
 Can be examined directly  AFP, desquated fetal cell
CHORIONIC VILLUS SAMPLING

 Under ultrasound screening

 A fine of catheter is passed through the
cervix and a small sample of chorion is
sucked out
 8th – 10th weeks of pregnancy
 Mesenchymal fibroblasts  chromosomal
studies, biochemical tests & DNA analysis
FETAL IMAGING

 18th weeks of pregnancy

 High resolution ultrasonography 
anatomical abnormalities such as neural tube
defect and short limbs
 Late pregnancy, x-ray examination will
reveal any marked change in bone density
DIAGNOSIS IN CHILDHOOD

1. Clinical Features
2. X-Rays
3. Special Investigations
1. Clinical Features

Tell-tale features suggesting skeletal dysplasia

are :
 Retarded growth and shortness of stature
 Disproportionate length of trunk & limbs
 Localized malformations (dysmorphism)
 Soft-tissue contracture
 Childhood deformity
1. Clinical Features

Measure at regular interval and record

 Height
 Length of lower segment (top of pubic to heel)
 Length of upper segment ( pubis to cranium)
 Span
 Head circumstance
 Chest circumference
1. Clinical Features

 Body proportion, rasio normal upper : lower segmen 

1,5 : 1 at the end of the first year & 1 : 1 at puberty
 Shortness of stature with normal proportional is not
necessarily abnormal  endocrine disorders which affect
the different parts of the skeleton more or less equally
 Small stature with disproportionate shortness of the
limbs is characteristic of skeletel dysplasia
1. Clinical Features

 The different segments of the limbs also may be

disproportionately affected
 The subtleties of dysplastic growth are reflected in
terms such as :
 Rhizomelia : unusually short proximal segments
(humeri and femora)
 Mesomelia : Short middle segments (forearms and
legs)
 Acromelia : Stubby hands and feet
1. Clinical Features

 Dysmorphism : misshapen part of the body

 most obvious in the face and hand
 Local deformities : kyphosis, valgus or
varus knees, bowed forearms and ulnar
deviated wrists  disturbed bone growth
2. X-Rays

 Anteroposterior views of the pelvis, knees

and hands
 Lateral views of the skull and thoracolumbar
spine
 Portions of long bones  epiphysis
metaphysis or diaphysis
3. Special Investigations

 Laboratory test : routine blood and urine

analysis, specific enzim activity and
cultured fibroblasts
 Bone biopsy
 Direct testing for gene mutations
ADULTS PRESENTATION

1. Clinical  Seek medical advice for :

 Short stature – Especially disproportionate shortness of the
lower limbs
 Local bone deformities or exostoses
 Spinal stenosis
 Repeated fractures
 Secondary osteoarthritis
 Joint laxity or instability
2. The family history
3. Previous medical history
MANAGEMENT

Depends on the diagnosis, the pattern of inheritance, the type and

severity of deformity or disability, mental capacity and social
aspirations
1. Communications
2. Counselling
3. Intrauterine surgery
4. Correction of deformities
5. Spinal surgery
6. Joint reconstruction
7. Gene therapy
CLASSIFICATION OF DEVELOPMENT
DISORDERS

1. Disorders of Cartilage and Bone Growth

(Skeletal Dysplasia)
2. Connective Tissue Disorders
3. Storage Disorders and Other Metabolic
Defects
4. Chromosome Disorders
DISORDERS OF CARTILAGE AND BONE
GROWTH / SKELETAL DYSPLASIAS

 Condro-Osteodysthrophies
 A large group of disorders characterized by abnormal
cartilage and bone growth
 Categorized the disorders according to recognizable
clinical and x-ray appearances
1. Predominantly physeal and metaphyseal changes
2. Predominantly epiphyseal and/or vertebral body
changes
3. Mainly diaphyseal changes
4. A mixture of abnormalities
DYSPLASIAS WITH PREDOMINANTLY
PHYSEAL AND METAPHYSEAL CHANGES
 Abnormal physeal growth 1. Hereditary multiple exostosis
 Defective metaphyseal (diaphyseal aclasis)
modelling 2. Achondroplasia
 Shortness of tubular bone 3. Hypochondroplasia
 Axial skeleton is affected 4. Dyschondrosteosis
 disproportionately short 5. Metaphyseal
compared to spine chondrodisplasia (dysostosis)
6. Dyschondroplasia
(enchondroplasia; ollier’s
disease)
7. Mafucci’s syndrome
1. Hereditary Multiple Exostosis
(Diaphyseal Aclasis)
Clinical features :
 Childhood
 Hard lumps  ends of the
long bone and apophyseal
borders of the scapula dan
pelvis
 The affected bones are short
 Forearm & leg  typical
deformities : ulnar deviation
of the wrist, bowing of the
radius, subluxation of radial
head, valgus knee and valgus
ankles.
 1 – 2 % patients 
Chrondrosarcoma.
1. Hereditary Multiple Exostosis
(Diaphyseal Aclasis)
 X-Ray : broad and poorly
modelled with sessile and
pedunculated exostoses,
mottled apperance.
 Pathology : unrestrained
tranverse growth of the
cartilaginous physis (growth
plate)
 Genetic : autosomal dominant
 Management : need removal,
legs & forearms  osteotomy
2. Achondroplasia

Clinical features :
 Stunted
 The limbs are
disproportionately short,
disproportionately long in
comparison with the limbs
 The skull is quite large
 Infants : thoracolumbar
kyphos
 Adulthood : shortening of
vertebral pedicles 
lumbar spinal stenosis
2. Achondroplasia
 X-Ray : tubular bones are short,
metaphyses wide & the physeal
line somewhat irregular.
 Diagnosis :
 Pathology : abnormality of
endochondral longitudinal
growth
 Genetic : autosomal dominant
inheritance
 Management : operative
treatment (childhood  for
lower limb deformities &
thoracolumbar kyphosis,
adulthood  spinal stenosis &
intervertebral disc pro
3. Hypochondroplasia
 Very mild form of
achondroplasia
 There is little any
abnormalities than
achondroplasia
 Normal stocky individual
 X-Ray : slight pelvic
flattening and thickening
of the long bones
 Autosomal dominant
 Patients ask for limb
lengthening
4. Dyschondrosteosis
 Disproportionate shortening
of the limbss  the middle
segments (forearms and legs)
 The commonest of the
mesomelic dysplasias
 Autosomal dominant defect
 Stature is reduced
 X-Ray : shortening (bowing
of the radius and Madelung’s
deformity
 Operative treatment
5. Metaphyseal Chondrodysplasia
(Dysostosis)
 Short limbed dwarfism
??
 Bilateral coxa vara and
bowed legs
 The main deformities
are around the hips and
knees
 Several form : Schimed
type, McKusick type,
6. Dyschondroplasia
(Enchondromatosis; Ollier’s Disease)
 Unilateral, affected
limb is short
 Not inherited 
embryonal disorder
 X-Ray : radioluscent
 Need correction 
until growth is
complete  recur
7. Maffucci Syndrome

 Multiple
enchondromas and
soft tissue
hemangioma of the
skin and viscera
 Strong tendency for
malignant change
 Should be monitor
throughout life
DYSPLASIAS WITH PREDOMINANTLY
EPIPHYSEAL CHANGES

 Multiple Epiphyseal Dysplasia

 Spondyloepiphyseal Dysplasia
 Dysplasia Epiphysealis Hemimelica
(Trevor’s Disease)
 Chondrodyplasia Punctata
(Stippled Epiphyses)
Multiple Epiphyseal Dysplasia (MED)

 Clinical features : Below

average height, lower
limbs are
disproportionately short
compared to the trunk
 X-Ray : Epiphyseal
ossification is delayed 
irregular or abnormal
outline
Multiple Epiphyseal Dysplasia (MED)
 Genetics : heterogeneous
disorders  autosomal
dominant
 Diagnosis : confused 
Achondroplasia and
hypochondroplasia,
Pseudochondroplasia, Perthes’
Disease, Cretinism
 Management : corrective
osteotomy
Spondyloepiphyseal Dysplasia
SED CONGENITA
 Autosomal disorder, the limbs are
short, trunk is even shorter and
the neck hardly there  dorsal
kyphosis and typical barrel-
shaped chest
 Widespread epiphyseal dysplasia
and characteristic vertebral
changes
 Shortening is in distal limbs
segment and urinalysis 
excretion of keratan sulphate
 Corrective osteotomy
SED TARDA
 X-Linked recessive, fails to
grow normally and develops a
kyphoscoliosis, shortening of
the trunk and tendency to
barrel-chest
 Platyspondyly and abnormal
ossification ot he ring
epiphyses
 Treatment for backache
Dysplasia Epiphysealis Hemimelica
(Trevor’s Disease)
 Affecting only one limb
and only one-half (the
medial or lateral half) of
each epiphysis, appears
at the ankle and knee.
 Asymmetrical
enlargement of the bony
epiphysis
 Excess bone  removed
Chondrodyplasia Punctata (Stippled
Epiphyses)
 Multisystem disorder
producing facial
abnormalities, vertebral
anomalies, asymmetrical
epiphyseal changes and bone
shortening
 Punctate stippling of the
cartilaginous epiphyses and
apophyses
 Preventing deformities that
develop in older children :
joint contractures, limb
length inequality or scoliosis
DYSPLASIAS WITH PREDOMINANTLY
DIAPHYSEAL CHANGES

 Metaphyseal Dysplasia (Pyle’s Disease)

 Craniometaphyseal Dysplasia
 Osteopetrosis (Marble bones, Albers-Schonberg
Disease)
 Diaphyseal Dysplasia (Engelmann’s or Camurti’s
Disease)
 Craniodiaphyseal Dysplasia
 Pyknodyostosis
 Candle Bones, Spotted Bones and Striped Bones
Metaphyseal Dysplasia (Pyle’s Disease)
 Genu valgum – or
rather valgus
angulation of the
bones on either side of
the knee
 Typical bottle shape
 Autosomal recessive
 Treatment is seldom
needed
Craniometaphyseal Dysplasia

 Autosomal dominant
 Progressive thickening
the skull and mandible
 prominent
forehead, a large jaw
and a squashed –
looking nose
 Operative (sometimes)
Osteopetrosis (Marble bones, Albers-
Schonberg Disease)
Osteopetrosis Tarda Osteopetrosis Congenita
 Seldom cause symptoms,  Rare, present at birth,
complications : complication : optic or
pathological fracture or facial nerve palsy
cranial nerve compression
due to encroachment on  Th  transplanting
foramina. marrow
 Cortices are widened,
 Th/  if complications
occur
Diaphyseal Dysplasia (Engelmann’s or
Camurati’s Disease)
 Associated  muscle
pain and weakness
 Fusiform widening
and sclerosis of the
long bones and
sometimes thickening
of the skull
 Symptomatic
treatment
Craniodiaphyseal Dysplasia

 Prominent facial
contour
 Cylindrical expansion
of the long bones and
gross thickening of the
skull and facial bones,
complication :
foraminal occlusion 
deafness and visual
impairment
Pyknodysostosis

 Shortness of stature,
frontal bossing,
underdevelopment of
the mandibula and
abnormal dentition.
 The skull are enlarged,
with wide suture lines
and open frontalles.
 (-) need treatment
Candle bones, Spotted Bones and Striped
Bones
Candle Bones Spotted Bones Striped Bones

Discovered  accidental Accidental Symptomless

Irregular patches of Lines of increased density

White spots distributed
sclerosis, usually through parallel to the shaft of long
throughout skeleton
the limb bones

Non familial Autosomal dominant Autosomal dominant

COMBINED & MIXED DYSPLASIAS

 Spondylometaphyseal Dysplasia
 Pseudoachondroplasia
 Diastrophic Dysplasia
 Cleidocranial Dysplasia
 Nail-Patella Syndrome
 Craniofacial Dysplasia
COMBINED & MIXED DYSPLASIAS

Spondylometaphyseal
Pseudoachondroplasia
Dysplasia
The commonest Rare, not evident at birth
but a year or two later
Ro : Severe vertebral Ro : underdevelopment and
flattening and flattening of the epyphyses,
kyphoscoliosis widening of the
metaphyses, shortening of
the tubular bones and oval-
shaped vertebral bodies
Th/ : spinal deformity or Th/ : surgical correction
malalignment of the hip of
the knee
Diastrophic Dysplasia
Affected all types of
cartilage
Ro : epyphyseal hypoplasia
and maldevelopment,
metaphyseal thickening,
flattening of the pelvis and
kyphoscoliosis
Th/ : surgical correction
COMBINED & MIXED DYSPLASIAS
Cleidocranial Dysplasia
Hypoplasia of the clavicula
and flat bone  short with
large head, frontal
prominence, a flat looking
face & dropping shoulders
Ro : brachycephalic skull
and persistence of wormian
bones
Th/ : unnecessary
Nail-Patella Syndrome Craniofacial Dysplasia
The nails are hypoplastic Premature fusion of the
and the patellae unsually cranial sutures
small or absent.
Ro : hypoplastic or absent Ro : the head is egg-shaped
patellae
Th/ : - Th/ : preventing 
craniotomy/maxillofacial
reconstruction
CONNECTIVE TISSUE DISORDERS

1. Generalized (Familial) Joint Laxity

2. Marfan’s Syndrome
3. Ehlers-danlos Syndrome
4. Larsen’s Syndrome
5. Osteogenesis Imperfecta
6. Fibrodysplasia Ossificans Progressive
7. Neurofibromatosis
Generalized (Familial) Joint Laxity

 5%  hypermobility
1. Passive hyperextension of
the MCP joint to beyond 900
2. Passive stretching of the
thumb to touch the front of
the forearm
3. Hyperextension of the
elbow and knee
4. Ability to bend forward and
place the hands flat on the
floor with knee held
perfectly straight
 Transient joint pain/increased
risk of sprain ligament
Marfan’s Syndrome

 Tall, disproportionately long

legs and arms, often with
flattening or hollowing of the
chest (pectus excavatum),
upper body segment is
shorter than the lower, the
digit is unusually long (spider
fingers)
 Ro : normal  complication
(scoliosis, spondylolisthesis
or slipped epiphysis
 Th : treatment for progressive
scoliosis or flat feet.
Ehler-Danlos Syndrome

 Babies  hypotonia
and joint laxity, older
patients  skin is soft
and hyperextensible 
easily to damage,
vascular fragility
 Th : treatment 
complication
Larsen’s Syndrome

 Joint laxity and

dislocation of the hips,
instability of knee,
subluxation of radial
head, equinovarus
deformities of the feet
and dish-face
appearance
 Th : operative
treatment
Osteogenesis Imperfecta (Brittle Bones)

 Osteopenia, liability to Type 1 Type II

Type III Type IV
Severe Moderately
fracture, laxity of Mild Lethal
Deforming Severe
ligaments, blue
coloration of the sclerae, Over 50% 5 – 10% Classic Less than
5%
dentinogenesis Fracture : 1- Fracture : Fracture : at Fracture :
imperfecta 2 years of intrauterine birth early
 Ro : osteopenia, age & neonatal childhood

thinning of the long Quality of Stillborn or Poor quality Survive to

bones, fractures in life good, survive for of life adulthood
various stage of healing, normal life only a few with fairly
expectancy weeks good
vertebra compression function
and spinal deformity
Osteogenesis Imperfecta (Brittle Bones)

 Therapy :
Conservative
treatment

Preventing the
fractures
Fibrodysplasia Ossificans Progressiva

 Rare, widespread
ossification of the
connective tissue of
muscle, mainly in the
trunk
 Th : disphosponates
for prevent
progression
Neurofibromatosis
Th : corrective operation Type I (NF-1) Type II (NF-II)

Most , 1 : 3,500 Less, 1 : 50,000

Neurofibromatoma, Intracranial lession

Patches of skin (acoustic neuromas
pigmentations and meningioma)

Musculoskeletal
manifestation : Musculoskeletal
vertebral bodies, manifestation : rare
ribs and tibia
METABOLIC DEFECTS

1. Mucopolysaccharidoses
2. Gaucher’s disease
3. Homocystinuria
4. Alkaptonuria
5. Congenital Hyperuricemia
Mucopolysaccharidoses
Morquio-
Hurler’s
syndrome
Hunter’s
syndrome
Brailsford  Th : no specific
(MPS I) (MPS II)
syndrome
(MPS IV)
treatment
Appears 2-3 age
of years
Appear 3 age of
years
Appear > 3 age of
years
Hurler’s syndrome 
Typical Similar to Hurler’s Looked dwarfed,
very poor prognosis
appearance :
undersized,
syndrome but less
severe
short neck and
protuberant hunter’s syndrome 
hepatosplenomega
ly, coarse facies,
sternum, joint
laxity and
death in the middle or
protruding tongue,
defective hearing
progressive
genuvalgum
late teens
and mental
retardation
Morquio’s syndrome 
Ro : hypoplastic Ro : hypoplastic Ro : spine show orthopaedic problem 
epiphyses and epiphyses typical ovoid,
vertebral bodies hypoplastic correction
vertebral bodies
Gaucher’s Disease
 Glucosylceeramide B-
glucosidase
 Anemia, thrombocytopenia,
hepatosplenomegaly or bone
pain, skeletal abnormalities
 Lab : Confirmed by low
glucocerebrosidase activity in
the blood or DNA test
 Ro : more marked in cancellous
bone  distal femur
(Erlenmeyer flask apperance,
osteonecrosis of the femoral
head, femoral condyles, talus or
humeral head.
 Th : symptomatic treatment
Homocystinuria

 Cystathionine B-
synthetase and
acculumation of
homocysteine and
methionine
 Tall and thin,
osteoporosis, mental
retardation, joint laxity
and muscle weakness
 Th : vit B6.
Alkaptonuria

 Homogensitic acid
oxidase
 Cartilage and other
connective tissue are
stained grey 
ochonosis
Congenital Hyperuricaemia

 Hypoxanthine-guanine
phosphoribosyltransfer
ase (HGPRT)
CHROMOSOME DISORDERS

1. Down’s Syndrome (Trisomy 21)

2. Turner’s Syndrome
3. Klinefelter’s Syndrome
Down’s Syndrome

 The head is foreshortened

and the eyes slant
upwards, with prominent
epicanthic folds (the nose
is flattened, the lips are
parted and the tongue
protrudes), abnormal
palmar creases,
clinodactyly
 Th : no specific treatment
 cosmetic improvement
Turner’s Syndrome Klinefelter’s Syndrome

 Female  normal vagina  Male  gynaecomastia

and uterus but ovaries are and underdevelopment
markedly hypoplastic or
absent testicles
 Short, barrel chest,  Androgen replacement
cardiovascular and renal treatment
abnormalities are common,
amenorrhea and
hypoganism  early
osteoporosis
 Estrogen replacement
treatment
LOCALIZED MALFROMATIONS

1. Vertebral Anomalies
2. Klippel-Feil Syndrome (Congenital Short
Neck)
3. Elevation of the Scapula (Undescended
Scapula; Sprengel’s Deformity)
4. Thoracospinal Anomalies
5. Limb Anomalies
Vertebral Anomalies

 3 main kinds :
1. Agenesis
2. Dysgenesis
3. Dysraphism
Klippel-Feil
 Fusion of two or more
cervical vertebrae  short
neck, neck movement are
restricted or absent
 Associated anomalies 
hemivertebrae, posterior arch
defect, cervical
meningomyelocele, thoracic
defect, scapular elevation and
visceral abnormalities
 Th : usually not necessary 
needed for threatened cord
compression
Elevation of the Scapula
(Undescended Scapula; Sprengel’s Deformity)
 Scapula is abnormally small
and too high, sometimes the
clavicle is affected well 
shoulder movement may be
restricted
 Associated with other defect of
the cervical spine and high
thoracic kyphosis or scoliosis
 Th : only if shoulder
movements are severely
limited  best performed
before the age of 6 years
Thoracospinal Anomalies

 Usually involve the ribs as

well
 Scoliosis or
kyphoscoliosis, sometimes
 paraplegia
 Ro : fusion thoracic
vertebral fusion or
dysgenesis and rib
anomalies
 Th : needed for threatened
cord compression
Limb Anomalies

 Included : extra bones,  Radial deficiency

absent bones,  Ulnar deficiency
hypoplastic bones and  Tibial deficiency
 Fibular deficiency
fusions  Congenital
pseudoarthrosis of the
tibia
 Congenital tibial bowing
 Pseudoarthrosis of the
clavicle
 Synostosis
 Digital anomalies