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Tibial hemimelia - report of a new Brazilian family. An overview.

A. Richieri-Costa

Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, USP, Caixa Postal 620, 17043 Bauru, SP, Brasil

ABSTRACT

We report on a Brazilian patient with right tibial hemimelia. Three relatives through the paternal line had preaxial polydactyly and another three had imperforate anus. Genetic and phenotypical aspects concerning the tibial hemimelia syndromes and their relationship with other congenital defects, especially polydactyly and imperforate anus are discussed, as well as the main points involving different types of tibial hemimelia conditions.

Keywords: Tibial hemimelia; Brazilian family.

REFERENCES

Aylsworth, A.S. (1985). The Townes-Brocks syndrome: a member of the anus-hand-ear family of syndromes. Am. J. Hum. Genet. 37: 43.

Aylsworth, A.S. and Kirkman, H.N. (1979). Genetic counselling for autosomal dominant disorders with incomplete penetrance. B.D.O.A.S. XV(5): 25-38.

Brown, F.W. (1965). Construction of a knee joint in congenital total absence of the tibia (paraxial hemimelia tibia). J. Bone Joint Surg. 47A: 695-704.

Carraro, A. (1931). Assenza congenita delle tibia e sordomutismo nel quattro fratelli. Chir. Organi Mov. 16: 429-438.

Clark, M.W. (1975). Autosomal dominant inheritance of tibial meromelia. Report of a kindred. J. Bone Joint Surg. 57A: 262-264.

Drinnenberg, A. (1935). Klumphandilbung infolge angeborenen Radiusdefekte und ihre Behandlung. Ein Beitrag. Z. Orthop. Chir. 63: 297. Apud Temtamy and McKusick (1978).

Eaton, G.O. and McKusick, V.A. (1969). A seemingly unique polydactyly-syndactyly syndrome in four persons in three generations. B.D.O.A.S. V(3): 221-225.

Emami-Ahari, Z. and Mahloudji, M. (1974). Bilateral absence of the tibia in three sibs. B.D.O.A.S. X(5): 197-200.

Frota-Pessoa, O., Otto, P.A. and Olivares-Plaza Jr. (1976). The variation of recurrence risks with penetrance for isolated cases of autosomal dominant conditions. J. Hered. 67: 256.

Gollop, T.R., Luchesi, E., Martins, R.M.M. and Nione, A.S. (1980). Brief clinical report: Familial occurrence of bifid femur and monodactylous ectrodactyly. Am. J. Med. Genet. 7: 319-322.

Ho, C.K., Kaufman, R.L. and McAlister, W.I.I. (1975). Cleft palate, congenital heart disease, absent tibiae, and polydactyly.Am. J. Dis. Child. 129: 714-716.

Jones, D., Barnes, J. and Lloyd-Roberts, G.C. (1978). Congenital aplasia and dysplasia of the tibia with intact fibula. Classification and management. J. Bone Joint Surg. 60B: 31-39.

Der Kaloustian, V.M. and Mnaymneh, W.A. (1973). Bilateral tibial aplasia with lobster-claw hands. A rare genetic entity. Acta Paediatr. Scand. 62: 77-78.

Kapur, S., Remes, G.M., Waterman, D.F., Toriello, H.V. and Higgins, J.V. (1982). Two families with tibial aplasia and ectrodatyly. Am. J. Hum. Genet. 34: 96A.

Lamb, D.W., Wynne-Davies, R. and Whitmore, J.M. (1983). Five-fingered hand associated with partial or complete tibial absence and pre-axial polydactyly. A kindred of 15 affected individuals in five generations. J. Bone Joint Surg. 65B: 60-63.

Laurin, C.A., Favreau, J.C. and Labelle, P. (1964). Bilateral absence of the radius and with bilateral reduplication of the ulna and fibula. J. Bone Joint Surg. 46A: 137-142.

Lenz, W. (1982). Genetische Ursachen von Fehlbildungen beim Menschen. Verh. Dtsch. Ges. Pathol. 66: 16-24.

Lurie, I.W. and Ilyina, H.G. (1986). Letter to the Editor: Gollop-Wolfgang-complex in a 3-month-old girl. Am. J. Med. Genet. 2: 191-194.

Mahloudji, M. and Farpour, H. (1974). An unusual deformity in an inbreed comunity. B.D.O.A.S. X(5): 75-80.

Majewski, F., Kuster, W., ter Haar, B. and Goecke, T. (1985). Aplasia of tibia with split-hand-split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance. Hum. Genet. 7a: 136-147.

McKay, M., Clarren, S.K. and Zorn, R. (1984). Isolated tibial hemimelia in sibs: An autosomal recessive disorder? Am. I. Med. Genet. 17: 603-607.

Otto, P.A. and Frota-Pessoa, O. (1979). Estimativa de riesgos geneticos. Anal Acad. Ci. Ex. Fis. Nat. Buenos Aires 31: 271-289.

Pashayan, H., Fraser, F.C., McIntyre, J.M. and Dumbar, J.S. (1971). Bilateral aplasia of the tibia, polidactyly and absent thumbs in father and daughter. J. Bone Joint Surg. 53B: 495-499.

Pfeiffer, R.A. and Roeskau, M. (1971). Agenesie der Tibia, Fibulaverdoppelung und spiegelbildliche Polydaktylie (Diplopodie) bei Mutter and Kind. Z. Kinderheilk. 111: 38-50.

Pina-Neto, J.M. (1984). Phenotypic variability in Townes-Brocks syndrome. Am. J. Med. Genet. 18: 147152.

Reber, M. (1%7/1968). Un syndrome osseaux peu commun associant une heptadactylie et une aplasie des tibias. J. Génét. Hum. 16(3/4): 15-39.

Richieri-Costa, A. (1987). Brief Clinical Report: Tibial hem imelia-cleft lip/palate in a Brazilian child born to consanguineous parents. Am. J. Med. Genet. 28: 325-329.

Richieri-Costa, A., Ferrareto, I., Masiero, D. and da Silva, C.R.M. (1987a). Tibial hemimelia: Report on 37 new cases, clinical and genetic considerations. Am. J. Med. Genet. 27: 867-884.

Richieri-Costa, A., Brunoni, D., Filho, J.L. and Kasinski, S. (1987b). Tibial aplasia-ectrodactyly as variant expression of the Gollop-Wolfgang-Complex: Report of a Brazilian Family. Am. J. Med. Genet. 28: 971-980.

Richieri-Costa, A. (1988). Tibial hemimelia-split hand/foot syndrome. Report of a Brazilian family. Rev. Bras. Genet. 11: 1009-1016.

Roberts, J.A.F. (1965). An Introduction to Medical Genetics. 3rd Ed. London: Oxford University Press, pp. 262-263.

Sandrow, R.E., Sullivan, P.D. and Steel, H.H. (1970). Hereditary ulnar and fibular dimelia with peculiar facies. J. Bone Joint Surg. 52A: 367-370.

Schade, H. (1937). Zur endogenen Entstehung von Gliedmassendefekten. Z. Morphol. Anthropol. 36: 375. Apud Temtamy and McKusick (1978).

Takahashi, T., Yamamoto, M. and Mochizuki, Y. (1968). Four cases of bilateral splithand with bilateral aplasia of the tibia in a family. Orthop. Surg. (Tokyo) 19: 95-98.

Temtamy, S. and McKusick (1978). The Genetics of Hand Malformations. B.D.O.A.S. XIV(3): 1-619. Werner, P. (1915). Ueber einen seltenen Fall von Zwergwuchs. Arch. Gynaekol. 1a4: 278-300.

Wiedemann, H.R. and Opitz, J.M. (1983). Unilateral partial tibial defect with preaxial polydactyly, general micromelia and trigonomacrocephaly with a note on "developmental resistence".Am.J. Med. Genet. 14: 467-472.

Wolfgang, G.L. (1984). Complex congenital anomalies of the lower extremities: Femoral bifurcation, tibial hemimelia, and diastasis of the ankle. J. Bone Joint Surg. 66A: 453-458.

Yujnovsky, O., Ayala, D., Vincitorio, A., Viale, H., Sakati, N. and Nyhan, W.L. (1974). A syndrome of polydactyly-syndactyly and triphalangeal thumbs in three generations. Clin. Genet. 6: 51-59.