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Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and consideration about variability and penetrance

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Summary

Six families with a total of 34 affected persons with the syndrome of tibial aplasia and ectrodactyly are reported. The spectrum of malformations is compared to that of 99 familial cases from the literature. The full-blown syndrome consists of bilateral aplasia of tibiae and split-hand/split-foot deformity. Additional malformations may be distal hypoplasia or bifurcation of femora, hypo- or aplasia of ulnae, and minor anomalies such as aplasia of patellae, hypoplastic big toes, postaxial and intermediate polydactyly in connection with split-hand deformity, and cup-shaped ears. The mildest visible manifestation may be hypoplastic big toes, the severest is tetramonodactyly or transverse hemimelia. This disorder is autosomal dominantly inherited. The penetrance is markedly reduced.

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References

  • Aitken GT (1959) Amputation as a treatment for certain lower-extremity congenital abnormalities. J Bone Joint Surg [Am] 41:1267–1285

    Article  Google Scholar 

  • Aitken GT (1971) Tibial hemimelia. In: Aitken GT (ed) Selected lower-limb anomalies. Surgical and prosthetics management. National Academy of Sciences, Washington, pp 1–19

    Google Scholar 

  • Aletter C (1932) Über die angeborenen Defekte der Tibia. Frankf Z Pathol 43:196–221

    Google Scholar 

  • Andresen J (1942) Über einen Fall von Spalthand in Kombination mit schwerer Mißbildung der unteren Extremitäten in der Descendenz. Z Menschl Vererb Konstit 25:545–552

    Google Scholar 

  • Aylsworth AS, Kirkman HN (1979) Genetic counseling for autosomal dominant disorders with incomplete penetrance. Birth Defects XV:25–38

    Google Scholar 

  • Bertaux MA (1920) Cited by Aletter C (1932)

  • Birch-Jensen A (1949) Congenital deformities of the upper extremities. Domus Biologiae Hereditariae Humanae, Universitatis Hafniensis. Andelsbogtrykkeriet i Odense and Det Danske Forlag, p 176

  • Brown FW (1965) Construction of a knee joint in congenital total absence of the tibia (paraxial hemimelia tibia). J Bone Joint Surg [Am] 47:695–704

    Article  CAS  Google Scholar 

  • Bujdoso G, Lenz W (1980) Monodactylous splithand-splitfoot. A malformation occurring in three distinct genetic types. Eur J Pediatr 133:207–215

    Article  CAS  PubMed  Google Scholar 

  • Christianson AL, Nelson MM (1984) Four cases of trisomy 18 syndrome with limb reduction malformations. J Med Genet 21:293–297

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Daubenspeck K (1938) Extremitätenmißbildungen und ihre Therapie. Z Orthop 68:375–389

    Google Scholar 

  • Deragna S, Zucco V, Ferrante E (1966) Trasmissione ereditaria di aplasia del perone e di ectrodattilia. Quad Clin Obstet Ginecol 21:1295–1308

    CAS  Google Scholar 

  • Der Kaloustian VM, Mnaymneh WA (1973) Bilateral tibial aplasia with lobster-claw hands. Acta Paediatr Scand 62:77–78

    Article  Google Scholar 

  • Drinnenberg A (1935) Klumphandbildung infolge angeborenen Radiusdefekts und ihre Behandlung. Ein Beitrag. Z Orthop Chir 63:297–307

    Google Scholar 

  • Eaton GO, McKusick VA (1969) A seemingly unique polydactylysyndactyly syndrome in four persons in three generations. Birth Defects V:221–225

    Google Scholar 

  • Eckhardt H (1942) Über die genetische Einheit verschiedenartiger Extremitätenmißbildungen. Erbarzt 10:10–17

    Google Scholar 

  • Elmslie RC (1920) Congenital absence of the tibiae. Proc R Soc Med 13:224–225

    PubMed  PubMed Central  Google Scholar 

  • Emami-Ahari Z, Mahloudji M (1974) Bilateral absence of the tibias in three sibs. Birth Defects X:197–200

    Google Scholar 

  • Evans EL, Smith NR (1926) Congenital absence of tibia. Arch Dis Child 1:194–229

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Fairbank HAT (1924) Cited by Evans EL, Smith NR (1926)

  • Fischer H (1880) Der Riesenwuchs. Dtsch Z Chir 12:1–59

    Article  Google Scholar 

  • Frantz CH, O'Rahilly R (1961) Congenital skeletal limb deficiencies. J Bone Joint Surg [Am] 43:1202–1224 (page 1220)

    Article  Google Scholar 

  • Freund E (1936) Congenital defects of femur, fibula, and tibia. Arch Surg 33:349–391

    Article  Google Scholar 

  • Fried K, Goldberg MD, Mundel G, Reif R (1977) Severe lower limb malformation associated with other deformities and death in infancy in two brothers. J Med Genet 14:352–354

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Gerlach HJ (1936) Ein seltener Fall angeborener multipler Mißbildungen und seine Beziehung zum Gesetz zur Verhütung erbkranken Nachwuchses. Inaug-Diss, Rostock

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

    Article  CAS  PubMed  Google Scholar 

  • Graham JB, Badgley CE (1955) Split-hand with unusual complications. Am J Hum Genet 7:44–50

    CAS  PubMed  PubMed Central  Google Scholar 

  • Gray JE (1948) Congenital absence of the tibia. Anat Rec 101:265–273

    Article  CAS  PubMed  Google Scholar 

  • Hohmann G (1949) Hand und Arm und ihre Erkrankungen und deren Behandlungen. Bergmann, München, pp 241–245

    Google Scholar 

  • Joachimsthal G (1894) Ueber den angeborenen totalen Defect des Schienbeins. Z Orthop 3:140–173

    Google Scholar 

  • Kapur S, Remes GM, Waterman DF, Toriello HV, Higgins JV (1982) Two families with tibial aplasia and ectrodactyly. Am J Hum Genet 34:96A

  • Lagrot F (1924) Absence congenitale partielle du tibia. Rev Orthop Chirur Appar Mot 31:437–442

    Google Scholar 

  • Lamb DW, Wynne-Davies R, Whitmore JM (1983) Five-fingered hand associated with partial or complete tibial absence and pre-axial polydactyly. J Bone Joint Surg [Br] 65:60–63

    Article  CAS  Google Scholar 

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

    CAS  PubMed  Google Scholar 

  • Lindemann K (1937) Über die Beziehungen der angeborenen Gliedmaßenstummel zu erblichen Mißbildungen. Z Orthop 66:328–342

    Google Scholar 

  • Little EM (1913) Case of congenital absence of tibiae. Proc R Soc Med 7:161–162

    Google Scholar 

  • Mahloudji M, Farpour H (1974) An unusual limb deformity in an inbred community. Birth Defects X: 75–80

    Google Scholar 

  • Matthews WE, Mubarak SJ, Carroll NC (1977) Diastasis of the tibiofibular mortise, hypoplasia of the tibia, and clubfoot, in a neonate with cleft hand and cardiac anomalies. Clin Orthop 126:216–219

    Google Scholar 

  • McKay M, Clarren SK, Zorn R (1984) Isolated tibial hemimelia in sibs: An autosomal-recessive disorder? Am J Med Genet 17:603–607

    Article  CAS  PubMed  Google Scholar 

  • McKenzie BE (1897) Congenital defects of the long bones. NY Med J 65:241–248

    Google Scholar 

  • Nigst PF (1927) Ueber kongenitale Missbildungen des menschlichen Extremitätenskeletts, mit Röntgenbildern. Schweiz Med Wochenschr 8:7–18

    Google Scholar 

  • Otto (1850) Cited by Joachimsthal G (1894)

  • Peltesohn S (1913) Ueber einen Fall von operativ behandelter angeborener Missbildung der unteren Extremitäten. Berl Klin Wochenschr 50:731–734

    Google Scholar 

  • Perthes G (1902) Ueber Spalthand. Dtsch Z Chir 63:132–148

    Article  Google Scholar 

  • Pratt AD (1971) Apparent congenital absence of the tibia with lethal congenital cardiac disease. Am J Dis Child 122:452–454

    PubMed  Google Scholar 

  • Roberts JAF (1965) An introduction to medical genetics, 3rd edn. Oxford University Press, London, pp 262–263

    Google Scholar 

  • Salzer M (1960) Über den kongenitalen Tibiadefekt. Zentralbl Chir 85:673–683

    CAS  PubMed  Google Scholar 

  • Schade H (1937) Zur endogenen Entstehung von Gliedmaßendefekten. Z Morphol Anthropol 36:375–381

    Google Scholar 

  • Schrakamp F (1887) Casuistische Beiträge zur Lehre von den Extremitätenmissbildungen. Medicin Corresp Blatt Württemb 57:233–235

    Google Scholar 

  • Schwarzweller F (1939) Ein Beitrag zur Genese und Systematik der Gliedmaßenmißbildungen. Arch Orthop Unfall Chir 39:400–419

    Article  Google Scholar 

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

    CAS  Google Scholar 

  • Temtamy S, McKusick VA (1978) The genetics of hand malformation. Birth Defects XIV:53–71

    Google Scholar 

  • van den Berghe H, Dequeker J, Fryns JP, David G (1978) Familial occurrence of severe ulnar aplasia and lobster claw feet: A new syndrome. Hum Genet 42:109–113

    Article  PubMed  Google Scholar 

  • Waitz H (1895) Ueber einen Fall von congenitalem Defect beider Tibien. Dtsch Med Wochenschr 21:405–406

    Article  Google Scholar 

  • White WH, Baker H (1888) Case of congenital deformity of femora, absence of tibiae, and malformation of the feet and hands. Trans Clin Soc London 21:295–297

    Google Scholar 

  • Witt AN, Cotta H, Jäger M (1966) Die angeborenen Fehlbildungen der Hand und ihre operative Behandlung. thieme, Stuttgart, p 65

    Google Scholar 

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

    Article  CAS  Google Scholar 

  • Yelton CL (1962) Certain congenital limb deficiencies occurring in twins and half-siblings. Inter-clinic Inform Bull 1 (no 5):1–6

    Google Scholar 

Download references

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Authors and Affiliations

  1. Institute of Human Genetics, University of Düsseldorf, Germany

    F. Majewski, W. Küster & T. Goecke

  2. Sint Radboudziekenhuis, University of Nijmegen, The Netherlands

    B. ter Haar

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  1. F. Majewski
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  2. W. Küster
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  3. B. ter Haar
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  4. T. Goecke
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Majewski, F., Küster, W., ter Haar, B. et al. Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and consideration about variability and penetrance. Hum Genet 70, 136–147 (1985). https://doi.org/10.1007/BF00273072

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  • DOI: https://doi.org/10.1007/BF00273072

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