Tibial Aplasia-Ectrodactyly in a Nonautosomal Dominant Expression: Implications in Prenatal Sonology Diagnosis

Abstract

Tibial aplasia-ectrodactyly (TAE) is a syndrome of severe defects of the extremities. Because of its rare occurrence, its inheritance pathway is not clearly understood. The most widely accepted theory is a dominant expression, possibly with reduced penetrance in skipped generations. The case study presented raises the possibility of a recessive mode of inheritance, thus reducing the predictability of its occurrence in a family pedigree. For the physician and sonographer, this illustrates the importance of an understanding of this anomaly and thorough prenatal sonographic evaluation even in unsuspecting families. While the expectation of its occurrence is remote, early diagnosis when it is present expands the management options for the physician and family.

References

1. Richieri-Costa A, Brunoni D, Filho JL, Kasinski S: Tibial aplasia-ectodactyly as variant expression of the Gollop-Wolfgang complex . Am J Med Genet 1987;28: 971–980 .

2. Majewski F, Kuster W, terHaar B, Goeke T: Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance . Hum Genet 1985;70: 136–147 .

3. Kohn G, Shawwa RE, Grunebaum M: Aplasia of the tibia with bifurcation of the femur and ectrodactyly: evidence for an autosomal recessive type . Am J Med Genet 1989;33: 172–175 .

4. Bronshtein M, Gershoni-Baruch R: Prenatal transvaginal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome . Prenatal Diagnosis 1993;13: 519–522 .

5. Buyse ML (ed): Ectrodactyly, in: Birth Defects Encyclopedia. Dover, MA, Center for Birth Defects Information Services , 1990, pp 605–606.

6. Sener RN, Sayli BS, Isikan UE, Ormeci AR, Unsal M, Tigdemir M: Tetra-oligodactyly with bilateral aplasia and hypoplasia of long bones of upper and lower limbs: a variable manifestation of the syndrome of ectrodactyly with tibial aplasia . Pediatr Radiol 1990;21: 57–61 .

7. Lurie IW, Ilyina HG: Letter to the editor: Gollow-Wolfgang complex in a 3-month-old girl . Am J Med Genet Suppl 1986;2: 191–194 .

8. Gollop TR, Lucchesi E, Martins RMM, Nione AS: Familial occurrence of bifid femur and monodactylous ectrodactyly . Am J Med Genet 1980;7: 319–322 .

9. Wolfgang GL: Complex congenital anomalies of the lower extremities: femoral bifurcation, tibial hemimelia, and diastasis of the ankle . J Bone Joint Surg [Am] 1984;66: 453–458 .

10.

10. Majewski F, Goecke T, Mainecke P: Ectrodactyly and absence (hypoplasia) of the tibia: are there dominant and recessive types? Am J Med Genet 1996;63: 185–189 .

11.

11. Genuardi M, Pomponi MG, Sammito V, Bellussi A, Zollino M, Neri G: Split hand/foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1 . Am J Med Genet 1993;47: 823–831 .

12.

12. Yelton CL: Certain congenital limb deficiencies occurring in twins and half siblings . Inter-Clinic Inform Bulletin 1 1962;5: 1–6 .