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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.


Male-to-female ratio is 9:1. Mostly sporadic but possible autosomal recessive inheritance in some cases.


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. No specific pharmacological implications with this condition.

Lenz W, Zygulska M, Horst J: FFU complex: An analysis of 491 ceases. Hum Genet 91:347, 1993.  [PubMed: 8500790]

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