CONGENITAL (DEVELOPMENTAL) ABNORMALITIES OF THE SKELETON

Incidence:
0,7% of neonates are born with multiplex developmental anomalies
Morphological speciality:
In congenital malformations more tissues are affected, than it is apparent at first
sight:
aplastic or dysplastic tissues
blood vessels,
nerves,
muscles
Bones and joints are also dysplastic or aplastic.
Aetiology - Causes
Genetic inherited disorders
Dominant inheritance 50% of first degree relatives are affected
Recessive - 25% (1 of 4 siblings) are affected
X-linked inheritance father passes abnormal x-gene to daughter (carrier)
who passes is to child
Multifactorial inheritance
Intrauterine damage (first trimester!)
Toxins
Drugs (thalidomide Contergan)
radiation

thalidomide Contergan (1961) except in the USA, where FDA had

a strict control over teratological trial of new drugs, used in
pregnant women (used as sedatives, tested first probably in
holocaust camps

Classification
Generalised bone dysplasia
Anomaly due to intrauterine pathology: constriction rings
Hypoplasia (incomplete development)
gigantismus
Constriction rings of the hand and leg
Consequence: terminal (end) parts of
extremity may be missing

Duplication eg. polydactyly, delta-phalanx of thumb

Lack of separation of parts of extremity (eg. syndactyly, synostosis)
Deficient development of extremity (or part of extremity)
- longitudinal
- transversal

Deficient development of extremity

or part of extremity:
Transversal
defect
Terminal type
complete lack of distal part of
extremity

Deficient development of extremity

or part of extremity:
Name of transversal deficiency
according to the level of damage:
Complete deficiency
Partial deficiency of femur or tibia
- in proximal, middle or distal
third
Complete or partial deficiency of
tarsus, metatarsus, toes

Deficient development of the whole or part of an extremity

PHOCOMELIA - transversal intercalated (ie. segment in between two
bones) lack of extremity
Lack of humerus forearm, hand only
Lack of humerus forearm and hand only
Lack of forearm humerus and hand only

Deficient development of the whole

or part of an extremity
A: upper extremity longitudinal
developmental deficiency
preaxial (on radial side)
B: lower extremity
preaxial (on tibial side)

A. upper extremity - postaxial

(ulnar side - missing ulna)
B: lower extremity
longitudinal deficient development
postaxial (fibular side - missing
fibula)

Deficient development of the whole

or part of an extremity
Multiple developmental anomaly
Right upper arm
Transversal deficiency (forearm
missing)
right leg: postaxial deficiency
(fibula hemimelia _ fibula missing)
left leg :
preaxial congenital anomaly :
missing tibia

developmental deficiency of both

upper extremities :
Right:
preaxial - on the forearm (radius
missing)
Left:
intercalar transversal deficiency
(Forearm articulates to shoulder)

Preaxial congenital deformity

of both upper extremities:
Left:
radius aplasy,
pollex hypoplasy
right:
radius and
pollex hypoplasy

Lower extremity
Longitudinal developmental
deficiency:
proximal focal
femoral
defect,
Classification:

Pappas, 1983

proximal focal
femoral defect (IV)

proximal focal
femoral defect:
Left : III.
Right: VII.

 Ulna hypoplasy
+ Dislocation of head of radius

Operation:
Ulna resection,
placement of radius into the middle
third of ulna

Ulna deficientcy,
dislocation of head of
radius

Syndactily: lack of separation of fingers

or toes

Ulna hypoplasy
curved radius

operation with Ilizarov ring fixator

- Elongation of ulna

Delta phalanx
triphalangeal
pollex
type 3
supernumerary middle phalanx

Delta phalanx
triphalangeal
pollex type 3
supernumerary middle phalanx

Similar case - Delta phalanx

16 year old girl

Operation: resection of delta

phalanx
+ interphalangeal arthrodesis

Tibia hypoplasy
1,5 year old child
right leg: shorter + varus

Tibia hypoplasy
2/3rd of right tibia is missing

Tibia hypoplasia
Operation: Fibula pro Tibia
proximally
fibula into calcaneus distally

Tibia hypoplasy
Preop. x-ray

Tibia hypoplasy
elongation of proximal tibia

Tibia aplasy both legs : severe

torsional deformity + equinovarus
position of both feet

Tibia aplasy - operation: fibula into

femur (notch) proximally, and into
calcaneus distally

Tibia aplasia
Postop. X-ray

Tibia aplasy
same case at 10 years

Objectives in the management of congenital deficiency of extremities:

1. Improvement of function
2. Cosmetic esthetic outlook
Treatment options:
1. Conservative: exercises , splints orthoses
2. Operations - corrective procedures
3. Prosthesis
4. Rehabilitation

Aim of treatment:
Treatment of existing deformities, prevention of later deformities
Aspects of operative treatment:
Timing
Is there a spontaneous tendency to correction ?
Ability to cooperate
Number of operations expected
Functional adaptability
Psychological disorders
Upper or lower extremity is involved?
Timing:
Early operation must be done:
in rapid deterioration of deformity
in circulatory disturbance of The extremity due to growth in defrormed
position If possible, finish operation until school age