Classification of malformations
Limb anomalies may manifest as altered length, missing segments, or finger/toe defects. Key terms:
- Macromelia: excessive limb length.
- Macrodactyly: enlargement of fingers or toes (often due to arteriovenous fistulas).
- Ectromelia: complete absence of one or more limbs.
- Hemimelia: absence of part or the entire limb.
- Phocomelia: absence of the humerus or femur with preserved distal parts (hands and feet growing directly from the trunk).
- Syndactyly (syndactilia): cutaneous or osseous fusion of fingers/toes due to impaired embryogenesis (normally, separation occurs after 2 months).
- Polydactyly (polydactylia): supernumerary fingers or toes.
- Ectrodactyly (ectrodactilia): absence of one or more fingers or toes.
Congenital hip dislocation
In this pathology, the femoral head is displaced outside the acetabulum. The process is accompanied by hypoplasia of the head and thickening of the acetabulum. The malformation can be unilateral or bilateral.
Symptoms:
- In newborns: hip abduction and rotation are limited. Complete cure is possible during this period.
- With the onset of walking: displacement worsens, the leg shortens, and a characteristic "waddling gait" develops.
- On examination: pelvic deformation, pronounced lumbar lordosis.
Diagnosis is confirmed by radiography. Treatment consists of reduction of the femoral head followed by fixation with orthopedic devices or casts.
Clubfoot and joint deformities
Congenital clubfoot (pes equinovarus congenitus) is diagnosed visually. Treatment is started as early as possible. Conservative methods are used first: manual straightening with fixation, exercise therapy (PT), and massage. If this fails, surgery is used: ligament release, tendon transfer, or bone resection with cast fixation.
Another systemic condition is arthrogryposis (arthrogryposis). This is characterized by symmetrical multiple joint contractures due to muscle hypoplasia. The main symptom is joint stiffness. It is treated conservatively (exercise therapy, massage, physiotherapy).
Surgical treatment of finger and toe anomalies
Surgical correction is indicated for many malformations:
- Syndactyly: finger/toe separation is performed at the age of 2–3 years.
- Polydactyly: extra digits are removed if they interfere with hand or foot function.
- Macrodactyly: amputation of the enlarged digit is indicated when function is impaired.
- Ectrodactyly: microsurgical toe-to-hand transfer is used to restore function and aesthetics.
Early prosthetics and surgery are vital for the normal growth and development of the child.
Briefly: answers to topical questions
What are the main causes and pathogenesis of macrodactyly?
The etiology of macrodactyly is often associated with impaired local blood circulation and the presence of arteriovenous fistulas, which is accompanied by the enlargement of individual digits. Macrodactyly may be associated with neural lipofibromatosis (formerly fibrolipomatous hamartoma), which most commonly affects the median nerve.
What specific radiological signs confirm the diagnosis of congenital hip dislocation?
The diagnosis of congenital hip dislocation is confirmed by Putti's classical triad and changes in reference lines on the pelvic radiograph.
The main radiological signs include:
- Increased acetabular angle (Increased acetabular angle) — an increase in the angle between Hilgenreiner's line and a line tangent to the roof of the acetabulum.
- Small epiphysis (Small epiphysis) — delayed ossification of the femoral head ossification center.
- Superolateral displacement (Superolateral displacement) — displacement of the proximal end of the femur.
Additionally, there is interruption of Shenton's arcuate line and an increase in the medial space between the acetabular floor and the femoral head.
What anatomical components of foot deformity constitute congenital clubfoot (pes equinovarus)?
Congenital clubfoot consists of three main and two additional components of foot deformity.
Main components:
- Equinus (equinus) — plantar flexion of the foot.
- Varus (varus) — inward turning of the foot.
- Forefoot adduction (adduction) — medial displacement of the forefoot.
Additional components:
- Twisting of the lower leg bones (torsion) — frequently encountered.
- Limited mobility — is always present in the ankle joint.
What forms of syndactyly exist depending on the nature of tissue fusion?
Depending on the type of fusion, two forms of syndactyly are distinguished: cutaneous and osseous.
Terms with "macro-" mean enlargement (macromelia — entire limb, macrodactyly — digit), and "ectro-" means absence (ectromelia, ectrodactyly). Phocomelia — limbs resemble seal flippers (foca — seal).
Class and exam questions
At what age is syndactyly operated on?
Surgical separation of fused fingers/toes is optimally performed at the age of 2–3 years.
How is congenital dislocation of the hip treated?
Reduction of the femoral head and its immobilization with a plaster cast or orthopedic devices are performed.
What is phocomelia?
This is a malformation in which the proximal parts (thigh, arm) are absent, and normally developed feet or hands begin directly from the trunk.
How is ectrodactyly corrected?
Missing fingers on the hand are replaced using microsurgical toe-to-hand transfer.
What else to study on this topic
- Pathogenesis of arteriovenous fistula formation in macrodactyly.
- Types of orthopedic devices in the treatment of hip dislocation.
- Technique of wedge bone resection of the foot in clubfoot.
- Features of microsurgical toe transfer.
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