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.
FFU Syndrome; Proximal Focal Femoral Deficiency.
The incidence remains unknown. However, it is reported that there is a male-to-female ratio of 9:1.
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.
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.
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.
There is no specific pharmacological implication reported with this medical condition.
Jan van Geffen
M: Ultrasound-guided interscalene brachial plexus block in a child with femur fibula ulna syndrome. Paediatr Anaesth
J: FFU complex: An analysis of 491 ceases. Hum Genet