Femur-Fibula-Ulna Syndrome

At a glance

Polymalformative syndrome characterized by multiple osteoarticular anomalies of long bones of upper and lower extremities. The upper limbs and the right side are usually affected more often.

Synonyms

FFU Syndrome; Proximal Focal Femoral Deficiency.

Incidence

The incidence remains unknown. However, it is reported that there is a male-to-female ratio of 9:1.

Genetic inheritance

A genetic inheritance pattern has not been established although a possible autosomal recessive inheritance has been suspected in some cases. It is believed that most cases are due to sporadic mutations.

Clinical aspects

Based on clinical presentation and radiologic confirmation of the characteristic malformed limbs. The affection is asymmetrical and highly variable in its clinical expression. Males are affected more often, and usually the upper limb and the right side are more commonly malformed. Some of the more common malformations encountered are amelia of the arm, peromelia of the upper arm, humeroradial synostosis, peromelia of the femur, missing fingers, defect of the ulna or ulnar rays, and hypoplasia of the fibula.

Anesthetic considerations

Venous access may be difficult because of the limb anomalies. Installation of monitoring devices also can be affected by the limb abnormalities. Considerations for invasive monitoring may be justified only on the basis of inability to ensure proper placement and functioning of noninvasive devices. The use of regional anesthesia using ultrasound guided technique should be considered.

Pharmacological implications

There is no specific pharmacological implication reported with this medical condition.

References