Congenital Bone & joint Diseases

By
Dr.Abdullah bin Habeeballah bin Abdullah Juma
F.R.C.S.Ed
Associate Professor & Consultant Orthopaedic Surgeon

Introduction
1. Genetic aspects of orthopaedics.
2. Bone Dysplasias.
3. Neuromuscular Diseases.
4. The Spine.
5. The Hip.
6. The Knee.
7. The Foot.

Continue
8. Other Anomalies in the Extremities .
9. The Congenital Amputee .
10.Torsional deformities .
11.Juvenile Chronic Arthritis.
12.Bleeding Disorders.
13.Miscellaneous Conditions.

1. Genetic Aspects of
Orthopaedics
Abnormalities of skeletal development
can be of unknown aetiology , or
attributed to genetic abnormality due to
structural changes in the chromosomes.
The basic genetic principles are
important to understand and apply
clinically. These are the guide lines for
these complex clinical conditions.

Basic genetic principles :

Chromosomes aggregate to form nucleus.
Chromosomes can be seen individually
during cell division by a special staining.
Normal no. of chromosomes is 46 (Diploid
no.) including sex chromosomes (X & Y).
No. of chromosomes at cell division is 23
(Haploid no.) and form gametes, 22 pairs
are autosomes & 1 pair is sex type.

 Each chromosome consists of DNA

molecules embedded in protein matrix.
Each DNA molecule consists of groups of
polypeptide chains of a double helix .
Each group of polypeptide chains form a
gene. The corresponding gene at the
opposite locus of the paired chromosome
is known as an allele.

 If the members of a pair of alleles are

identical , the person is known as
Homozygous , and if different then he is
Heterozygous.
Chromosomal abnormalities can be
numerical and structural.
Numerical abnormalities occur due to
changes in no. of chromosomes due to
failure of paired chromosomes to separate
at the anaphase of cell division.

 Numerical abnormalities of multiples of

haploid no. of gametes produce polypoid
cells , e.g. trisomy ( of 21 in Downs
syndrome) .

 Structural Abnormalities occur during

disjunction and recombination due to
breakage or deletion of part of a
chromosome or translocation.
( Translocation arise when the position of a
portion of a chromosome becomes
changed & doesn't recombine opposite
its homologue,e.g.Cri du chat syndrome ).

Structural changes are caused by :

Normal event .
Irradiation .
Virus infection .
Late maternal age .
Other agents .

 In the genetic aspects of orthopaedics ,

the pattern of inheritance is clinically
recognizable as an expression of the
phenotype and known as penetrance .
The degree of phenotypic presentation is
called expression of the gene .

Genetic Aspects
A. A single gene disorder .

B. A multi-factorial disorder .

A. Single Gene Disorders

Due to a single abnormal gene .
This is the largest group of orthopaedic
anomalies with a known genetic basis.
Classification : can be Dominant or
Recessive according to the pattern of
inheritance .

Classification of single gene

disorders
Dominant : the abnormal single gene is
expressed whether it is homozygous or
heterozygous. This can be either
Autosomal or X linked .
Recessive : the abnormal single gene is
expressed only when homozygous. This
can be either Autosomal or X-linked.

Autosomal Dominant Inheritance

Male & Female are equally affected.
The chance of producing affected progeny
is 50% in a mating between an affected
and non-affected person .
Unaffected offspring will not inherit the
abnormal gene .

Autosomal Recessive Inheritance

The abnormal gene comes from both parents ,
although they are clinically normal . The carrier
is in a state of heterozygous.
The chance of 2 parents being heterozygous
for such abnormal gene is greater if they have a
common ancestry such as consanguineous
marriages . Their offspring will be ; diseased
( homozygous ) , 2/4 carrier ( heterozygous ) &
normal .

X-linked Dominant Inheritance

Very rare .
The affected father transmits the disease
to all his daughters & none to his sons .
The affected mother pass trait to of her
daughters & of her sons .
Example : Vit.D Resistant Rickets .

X-linked Recessive Inheritance

The abnormal recessive gene is carried
on X chromosome & will be expressed in
the presence of a Y chromosome
(Hemizygous) . Hence male is diseased &
female is a carrier .

 An affected male will transmit a Y

chromosome to his sons & therefore will
not be affected and X chromosome to his
daughters & therefore will be carriers.
If affected male marry a carrier female
then of their daughters will be affected
(Hemizygous) & of daughters will be
carriers .

Genetic Aspects
A. A single gene disorder .

B. A multi-factorial disorder .

B. Multi-factorial Inheritance
Some orthopaedic conditions have a
familial predisposition BUT no clear
inheritance .
Hence , both genetic & environmental
factors combine to present those
anomalies .
Examples : Spina Bifida & anencephaly ,
C.T.E.V. , Perthes Disease and A.I.S.

Spina Bifida & Anencephaly

The risk of recurrence after the 1st
affected child is ;
3-6%
The risk of recurrence after the 2nd
affected child is ;
10 %

Congenital Talipes Equino-Varus

deformity (C.T.E.V.)
The risk of recurrence after the 1st
affected child is ;
<5%
The risk of recurrence after the 2nd
affected child or one parent affected is;
20 %

Legg-Calve-Perthes Disease
The risk factors are :

Low socio-economical class .

Children born 3d or later .
Elder parents .
Fetal mal-position .

Adolescent Idiopathic Scoliosis

(A.I.S. )
This type of spinal abnormality occurs in
the coronal plane of the spine .
It appears in the adolescent phase and
more commoner in female .
No identifiable cause , but it shows a
strong familial tendency .

Introduction
1. Genetic aspects of orthopaedics.
2. Bone Dysplasias .
3. Neuromuscular Diseases.
4. The Spine.
5. The Hip.
6. The Knee.
7. The Foot.

2. Bone Dysplasias
Uncommon .
2 types : Generalized ( Dysplasias ) &
Localized ( Dysostosis ) .
Growth disturbance can be in the
Epiphysis , Metaphysis or Vertebrae .
Dwarfism is a pathological diminution of
height below the normal range of
population .

Investigations & Diagnosis of Bone

Dysplasias
Clinical Examination for deformity ,
disproportion , height , span , eye & ear
exam , I.Q.
Radiological Examination of skull
(always) & skeletal survey .
Biochemical investigations such as
urinalysis as in Mucopolysaccharidoses .

 Family study of pedigree & pattern of

inheritance .
Other investigations such as histology ,
histochemical study , amniocentesis at
16/52 weeks , foetoscopy , endoscopy ,
level of alpha-fetoprotein and ultrasound.

Classification of Bone Dysplasias

Authors who contributed in classification

of bone Dysplasias :
Sir Thomas Fairbank An Atlas of
General Affections of the Skeleton
Weiderman & Langer .. Germany
Lammy & Maroteaux .. France
McKusick .. USA
Waynne Davies .. UK

 Rubin 1964 , wrote Dynamic Classification of

Bone Dysplasias based on the anatomical site
of the abnormality: epiphysis , growth plate ,
metaphysis , or diaphysis .
European Society of Paediatric Radiology
in Paris ,1969,publishing International
Nomenclature of Constitutional Disorders of
Bone 1970 .

 F.T.Horan wrote , a simple classification

in the Postgraduate Textbook of Clinical
Orthopaedics .
This classification was simplified for the
sake of description and understanding ,
but the subject is so complex that needs
continuous updating and revision .

A simple Classification of Bone

Dysplasias
1. Dwarfism .
2. Disorders around growth plate ;
a. Predominantly epiphyseal
b. Predominantly metaphysial
c. Predominantly vertebrae

ContinueClassification of Bone
Dysplasia
3. Changes in bone density ;
increased vs. decreased
4. Craniotubular disorders .
5. Craniofacial abnormalities .
6. Vertebral anomalies .
7. Lysosomal storage disorders .
8. Abnormalities of cartilage & fibrous
tissues .
9. Miscellaneous disorders .

A simple Classification of Bone

Dysplasias
1. Dwarfism .
2. Disorders around growth plate ;
a. Predominantly epiphyseal
b. Predominantly metaphysial
c. Predominantly vertebrae

1. Dwarfism : 2 types
Proportionate :
There is equal
involvement of all
bony segments . The
patient presents with
a short stature in a
miniature scale as
seen in the circus .

Disproportionate :
This is of 2 types ;
1. Short limb Dwarf
2. Short trunk Dwarf
Both types show
atypical phenotypes
and clinically obvious
as atypical dwarf .

A simple Classification of Bone

Dysplasias
1. Dwarfism .
2. Disorders around growth plate ;
a. Predominantly epiphyseal
b. Predominantly metaphysial
c. Predominantly vertebrae

2. Disorders around the growth

plate : 3 groups
A. The epiphyseal side of the growth plate
is principally involved leading to failure
to produce a normal ossific nucleus .
B. The metaphysial side of the growth
plate is principally involved leading to
failure of endochondral bone formation .
C. The vertebral growth is mainly
involved in association with abnormality
of epiphysis or metaphysis .

A simple Classification of Bone

Dysplasias
1. Dwarfism .
2. Disorders around growth plate ;
a. Predominantly epiphyseal
b. Predominantly metaphysial
c. Predominantly vertebrae

A. Predominantly Epiphyseal
Involvement :
1. Multiple Epiphyseal Dysplasia( MED ) :

Autosomal Dominant .
Most forms give little problems .
Symptoms arise from premature
degenerative changes in the weight
bearing joints in adults .

2. Chondrodysplasia Punctata ( Stippled

Epiphysis ) :
Autosomal dominant .
Severe form is autosomal recessive .
2 main forms ; *a. Majority have flat face ,
depressed nasal bridge , atrophic skin ,
cataracts , joint contractures , scoliosis ,
asymmetrical limb shortening & stippling of
epiphysis of long bones up to the age of 4 .
* b. Conradi Hunnermann .
The affected infant is stillborn .

NOTE :
Stippling of epiphysis can occur in ;
Multiple Epiphyseal Dysplasia .
Spondylo Epiphyseal Dysplasia .
Hypothyroidism .
Fetal Warfarin Syndrome .

A simple Classification of Bone

Dysplasias
1. Dwarfism .
2. Disorders around growth plate :
a. Predominantly epiphyseal
b. Predominantly metaphysial
c. Predominantly vertebrae

B. Predominantly Metaphyseal
Involvement :
1. Achondroplasia .
2. Hypochondroplasia .
3. Metaphyseal Chondroplasia .
4. Familial Hypophosphataemia
( Vitamin D Resistant Rickets )

1. Achondroplasia

80% result from new mutation .

Autosomal dominant .
Commonest form of dwarfism .
Disproportionate type of dwarfism .
Short limb dwarf & proximal segments
are particularly affected .
Apparent at birth .

Metaphyseal abnormalities predominate .

Some spinal involvement .
Forehead prominent .
Nasal bridge depressed .
Fingers are short & stubby with a trident
appearance .
Walk late .

Prominent abdomen .
Hip flexion contracture .
Genu varus deformity late in childhood .
Valgus deformity of the ankle joint .
Lumbar lordosis .
Mid spinal kyphosis in infancy &
disappears after walking .

X Rays :
Calvarium is large .
Base of skull is underdeveloped .
Limbs are short , wide , irregular
metaphyses but epiphyses are normal .
Pelvis shows squared iliac wings & small
greater sciatic notches .

 Narrow spinal canal .

Pedicles are short & inter pedicular
space is reduced .
Surgery will be required to correct
deformities and decompress the spine if
symptoms arise .
Family counseling is needed .

B. Predominantly Metaphyseal
Involvement :
1. Achondroplasia .
2. Hypochondroplasia .
3. Metaphyseal Chondroplasia .
4. Familial Hypophosphataemia
( Vitamin D Resistant Rickets )

2. Hypochondroplasia

Autosomal dominant .
Distinct genetically from achondroplasia .
The cranium,facies & fingers are normal.
Stature less stunted .
Spinal changes are less .
Clinical stigmata are minimal & not
easily diagnosed .

X Rays :

. Pelvis shows horizontal sacrum & short

femoral necks .

B. Predominantly Metaphyseal
Involvement :
1. Achondroplasia .
2. Hypochondroplasia .
3. Metaphyseal Chondroplasia .
4. Familial Hypophosphataemia
( Vitamin D Resistant Rickets )

3. Metaphyseal Chondrodysplasia
Autosomal dominant .
Types : Schmid , Jansen & McKusick
(Cartilage Hair Hypoplsia) .
Schmid type ( commonest ) ;
Short stature .
Bow legs .
Bilateral Coxa Vara .
Lordotic lumbar spine .

B. Predominantly Metaphyseal
Involvement :
1. Achondroplasia .
2. Hypochondroplasia .
3. Metaphyseal Chondroplasia .
4. Familial Hypophosphataemia
( Vitamin D Resistant Rickets )

4. Familial Hypophosphataemia
( Vitamin-D Resistant Rickets )
X-linked dominant trait .
Metabolic disease .
Deformity of lower limbs ;
Bow legs .
Knock knees .
Windswept deformity .
Skeletal deformities are progressive .

X Rays :

. Wide irregular metaphysis .

. Normal epiphysis .
. Osteoporosis .
. Pseudo-fractures .

A simple Classification of Bone

Dysplasias
1. Dwarfism .
2. Disorders around growth plate :
A. Predominantly epiphyseal
B. Predominantly metaphysial
C. Predominantly vertebrae

C. Predominantly Vertebrae
1. Spondylo Epiphyseal Dysplasia .
2. Pseudo Achondroplasia .
3. Diastrophic Dysplasia .
4. Rare Syndromes .

1. Spondylo Epiphyseal
Dysplsia.. 2 forms :

Congenita ;
Autosomal dominant
At birth
Short-trunk dwarf
Barrel chest
G.valgus&varus def.
Club foot
Cleft palate

Tarda ;
X-linked recessive
Less severe ,variable
Apparent later
Relative short trunk
Early O.A. of joints
Mild club foot
No cleft palate

X Rays :
Epiphyses late
Vertebral bodies flat
(platyspondyly)
Odontoid process
hypoplastic leading
to atlanto-axial
instability

X Rays :
Mild dysplastic
changes in the joints
Platyspondyly with a
hump in posterior /
superior portion of
vertebral body

C. Predominantly Vertebrae
1. Spondylo Epiphyseal Dysplasia .
2. Pseudo Achondroplasia .
3. Diastrophic Dysplasia .
4. Rare Syndromes .

2. Pseudo-Achondroplsia
Heterogeneous of dominant & recessive .
Short limb dwarfism .
Normal craniofacial appearance when
compared with achondroplasia .
Some spinal deformity .
Genu varus & valgus deformity .

X-rays :
Vertebral bodies are flat , biconvex &
have irregular end plates . Become
normal towards puberty .
Pelvis .. Hypo-plastic & flattened
acetabulae .
Epiphysis & metaphysis of long bones are
abnormal .
Tubular bones are short & broad .

C. Predominantly Vertebrae
1. Spondylo Epiphyseal Dysplasia .
2. Pseudo Achondroplasia .
3. Diastrophic Dysplasia .
4. Rare Syndromes .

3. Diastrophic Dysplasia

Autosomal recessive .
Appears at birth .
Short limb dwarf .
Joint contructures & stiff equinus
deformity .
Proximally set limbs hitchhiker.
Cystic swelling of pinnae .

 Scoliosis is severe .
Mentally normal .
X-Rays : Kypho-scoliosis .
Epiphysis of long bones are flat .
Metaphysis are flared .
Phalanges , MC , MT are wide &
short .
Acetabulae wide & femoral heads
flat & irregular with varus neck .

C. Predominantly Vertebrae
1. Spondylo Epiphyseal Dysplasia .
2. Pseudo Achondroplasia .
3. Diastrophic Dysplasia .
4. Rare Syndromes .

4. Rare Syndromes
A. Metatropic Dysplasia.. Short limb
dwarf at birth and late in infancy short
trunk dwarf due to rapidly progressive
kyphoscoliosis .
B. Spondylometaphyseal Dysplasia..
Common, heterogeneous ,
disproportionate short stature & x-rays of
platyspondyly and metaphyseal
irregularity .
Kniest Dysplasia.. Rare & resembles
metatropic dysplasia .

ContinueClassification of Bone
Dysplasia
3. Changes in bone density ;
increased vs. decreased
4. Craniotubular disorders .
5. Craniofacial abnormalities .
6. Vertebral anomalies .
7. Lysosomal storage disorders .
8. Abnormalities of cartilage & fibrous tissues .
9. Miscellaneous disorders .

3. Changes in the Bone Density

Increased :
A. Osteopetrosis
Infantile .
Intermediate .
Tarda ( Adult ) .
B. Pycnodysostosis .

Decreased :
Osteogenesis
Imperfecta .

Increased bone density

A.Osteopetrosis :
Heterogeneous .
3 forms :
Infantile rare , stillbirth is common &
surviving infants show anaemia ,
hepatosplenomegaly , cranial nerves
palsy and delayed dentition .
Intermediate occurs sometimes .
Tarda adult form , autosomal
dominant .

Continue .. Osteopetrosis, tarda

form
Cranial nerves compression causing facial
palsy & deafness .
Pathological fractures .
Xrays : Thick calvarium with basal
sclerosis , vertebral end-plate sclerosis
causing a banded appearance the ruggerjersey spine , cortices of long bones are
widened & dense giving rise to an
endbone or bone within bone
appearance.

3. Changes in the Bone Density

Increased :
A. Osteopetrosis
Infantile .
Intermediate .
Tarda ( Adult ) .
B. Pycnodysostosis .

Decreased :
Osteogenesis
Imperfecta .

Increased bone density

B.Pycnodysostosis

Rare .
Short stature .
Generalized increase in bone density .
Face is small & triangular .
Mandible is under-developed with obtuse
angle
Hands are short & square with stubby
fingers .
Dentition is abnormal .
Pathological fractures .

Xrays :
Generalized sclerosis .
Little abnormality of modelling .
Skull..large calvarium , wide suture
lines,persistant fontanelles , wormian
bones , hypoplastic facial skeleton .
Terminal phalanges are short & irregular
.
Madelungs deformity .

3. Changes in the Bone Density

Increased :
A. Osteopetrosis
Infantile .
Intermediate .
Tarda ( Adult ) .
B. Pycnodysostosis .

Decreased :
Osteogenesis
Imperfecta .

Decreased bone density

Osteogenesis Imperfecta
Bone fragility .
Common bone dysplasia .
Heterogeneous .
2 forms :
Congenita .
Tarda .

Osteogenesis Imperfecta
2 forms..
Congenita :
Severe , stillbirth , or
early death.
Genetics uncertain ,
but some are
autosomal recessive
& some are new
mutations .
Head large , soft
calvarium & wide
fontanelles .

Tarda :
Less severer . Can
continue to adult life.
Majority autosomal
dominant but some
are heterogeneous &
genetics are obscure
and can be difficult .
Multiple fractures
which heal rapidly &
bruising tendency .

Osteogenesis Imperfecta..continue
Congenita.
Disproportionate
shortening of limbs .
Xrays : skull has
poor ossification ,
wide sutures & many
wormian bones .
Multiple fractures ,
spinal deformity with
biconcave or
flattened vertebrae .
Limbs are short &
wide or slender &
narrow .

Tarda ...
Sclerae blue , poor
dentition & laxity of
ligaments .
Xrays : skull ,
multiple fractures ,
spinal deformity and
abnormal limbs are
the same as in the
congenita .

4.Cranio-tubular Disorders