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FEMORAL
PHOCOMELIA
AL-AMIN MOHAMED OSMAN
ABDIAZIZ IBRAHIM MOHAMED
PRESENTATION LAY OUT
• Definition
• Causes
• Pathophysiology
• Classification
• Clinical presentation
• Management
DEFINITON
• Congenital :- Any physical abnormality present from
birth.
• Femoral :- Is the femur or thigh bone.
• Phocomelia:- Is a rare congenital deformity in which the
hands or feet are attached close to the trunk as result of
drug thalidomide taken during early pregnancy.
• The term comes from phoco (meaning 'seal’) and melia
(meaning 'limb'), Phocomelia is an extremely
rare congenital disorder involving malformation of the
limbs (dysmelia).
• Congenital femoral phocomelia:- Is a rare birth
defect that is characterized by a short femur or
absent due to the side effect of the drug
thalidomide during early pregnancy.
• Congenital femoral deficiency (CFD) :- Is a rare
birth defect that is characterized by a short femur,
associated with hip and knee deformity, deficiency,
or instability. The more severe types were
previously known as proximal femoral focal
deficiency (PFFD).
CONGENITAL FEMORAL
PHOCOMELIA
Characteristics of femoral
phocomelia
• CFP may affect one leg (most commonly) or both
legs.
• The thigh and leg are absent in lower limb
• The deficiency may be proximal or distal in lower
limb
• Severity can range from minor shorting of the
femur.
• Deficiency or instability of the hip and knee joint
often are also present
CAUSES
In many cases, the underlying cause of CFP is poorly
understood (unknown)
It can be inherited as part of genetic syndrome or
exposure to certain drugs, chemicals, radiation, and
viruses.
There are two main causes of CFP
• Use of Thalidomide
• Genetic inheritance
Cont…
Use of Thalidomide
• Thalidomide is usually prescribed for pregnant
women to reduce the morning sickness(nausea),
However, these women began to give birth to
children with limb anomalies until it was proven
that there are toxic effects of the medication that
are responsible.
• The period between 24 and 33 days after
fertilization is the most sensitive to the effects of
thalidomide.
Cont….
Genetic inheritance
• According to National Organization for Rare
Disorders (NORD): The presence of one recessive
gene on chromosome 8 in genotype of both
parents is obligational for the appearance of
phocomelia (autosomal recessive trait and the
mutation is linked to inheritance).
PATHOPHYSIOLOGY OF CFP
In general, individuals with CFP, the femur is shorten
or partially absent, and the entire limb is overall
shortened. A few biomechanical abnormalities are
present in children with CFP, as well as adults with
limb deficiencies. These include:
• Limb length discrepancies
• Malrotation
• Proximal joint instability
• Inadequacy of the proximal musculature.
Cont….
Vessels and ligaments are also known to be hypo plastic.
The spectrum of disease includes
Absent hip
Femoral neck pseudoarthrosis
Absent femur
Shortened femur
A rare autosomal dominant form associated with sonic
hedge – hog gene but the condition is mostly sporadic
CLASSIFICATION OF CFP AS
PFFD
Aitken’s Four- Part Classification Scheme
This classified in 4 group based on the radiographic appearance
Class A
Least severe type
Femoral head is present and attached to the shaft
Acetabulum is well formed
Femur is shortened and a coxa vara deformity is present
Aitken’s Four- Part Classification Scheme
Class B
Femoral segment is short and usually has a bulbous
• bony tuft
Proximal end of femur usually positioned above
• acetabulum is “adequate” on moderately dysplastic and contains
femoral head
At maturity, no osseous connection is seen between the femoral
head and the shaft
Aitken’s Four- Part Classification Scheme
Class C
• COMMENT
• ADDITION
• QUESTION