UNILATERAL / BILATERAL TIBIAL HEMIMELIA (AGENESIS)

Tibial hemimelia syndrome encompasses several syndromes that all have tibial hypoplasia or agenesis and polydactyly as their primary components (1).

Unilateral disease occurs in 77.4% of cases and bilateral disease occurs in 22.6% of cases (2,3).

* Autosomal recessive with variable degrees of penetrance (4).

ULTRASOUND

• Unilateral tibial agenesis.
• Associated malformations:
• Distal bifurcation of the femur.
• Club foot on the same limb.

REFERENCES

1. Richieri-Costa A, Ferrareto I, Masiero D et.al. Tibial hemimelia: report on 37 new cases, clinical and genetic considerations. Am J Med Genet 1987;27:867-884.
2. Froster-Iskenius UG, Baird P. Limb reduction defects in over one million consecutive livebirths. Tetralogy 1989;39:127-135.
3. Stoll C, Alembik Y, Dott B et.al. Risk factors in limb reduction defects. Paediatr Perinat Epidemiol 1992;6:323-338.
4. Wiedermann HR, Opitz JM. Unilateral partial tibial defect with preaxial polydactyly, general micromelia and trigonomacrocephaly with a note on "developmental resistance" Am J Med Genet 1983;14:467-472.
5. Dreyfus M, Baldauf J -J, Rigaut E et.al. Prenatal diagnosis of unilateral tibial hemimelia. Ultrasound Obstet Gynecol 1996;7:205-207.