Skip to main content

Advertisement

SpringerLink
Log in

Isolated femoral hypoplasia: an intrauterine differential diagnosis to campomelia

  • Case Report
  • Published:
Pediatric Radiology Aims and scope Submit manuscript

Abstract

The isolated form of femoral bowing is an important differential diagnosis of campomelia. Therefore, knowledge of isolated anomalies is fundamental for prenatal diagnosis, especially for the differential diagnosis from severe syndromes. Four cases are presented to discuss the differential diagnosis of femoral bowing including a review of the literature. We report four newborn babies with unilateral bowing and shortening of the femur. Three had no further anomaly; one child had additional abnormalities due to coumarin embryopathy. The radiological findings were shortened femora with bowing and varus deformity and cortical thickening on the concave side. All other parts showed normal bone structure. The aetiology of femoral bowing is unknown. Early damage of the cartilaginous model followed by remodelling with thickening on the concave side of the bone similar to the healing of malaligned fractures is suspected. The isolated form of femoral bowing without any other anomalies has to be differentiated from complex and more often severe congenital syndromes such as campomelia. Postpartum radiological examination should be reduced to a single exposure of the affected limb and follow-up should be done by clinical examination.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4

Similar content being viewed by others

References

  1. Caffey J (1947) Prenatal bowing and thickening of tubular bones, with multiple cutaneous dimples in the arms and legs; a congenital syndrome of mechanical origin. Am J Dis Child 74:543–562

    Google Scholar 

  2. Kalamchi A, Cowell HR, Kyung IK (1985) Congenital deficiency of the femur. J Pediatr Orthop 5:129–134

    Google Scholar 

  3. Keskin D, Karsan EO (2000) Congenital bilateral short femur complicated by stress fracture. A case report. Acta Orthop Belg 66:499–501

    Google Scholar 

  4. Courtens W, De Laet C, Ziereisen F, et al (2000) Unilateral bowing of long bones and multiple congenital anomalies in a child born to a mother with gestational diabetes. Ann Genet 43:81–88

    CAS  PubMed  Google Scholar 

  5. Martinez-Frias ML (1994) Epidemiological analysis of outcomes of pregnancy in diabetic mothers: identification of the most characteristic and most frequent congenital anomalies. Am J Med Gen 51:108–113

    CAS  Google Scholar 

  6. Ramos-Arroyo MA, Rodriguez-Pinilla E, Cordero JF (1992) Maternal diabetes: the risk for specific birth defects. Eur J Epidemiol 8:503–508

    Article  CAS  PubMed  Google Scholar 

  7. Struwe FE, Reinwein H, Stier R (1984) Coumarin embryopathy (in German). Der Radiologe 24:68–71

    CAS  PubMed  Google Scholar 

  8. MacDermot KD, Winter RM, Wigglesworth JS, et al (1991) Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review. J Med Genet 28:10–17

    CAS  PubMed  Google Scholar 

  9. Moore LA, Moore CA, Smith JA, et al (1993) Asymmetric and symmetric long bone bowing in two sibs: an apparently new bone dysplasia. Am J Med Gen 47:1072–1077

    CAS  Google Scholar 

  10. Kapur S, Van Vloten A (1986) Isolated congenital bowed long bones. Clin Genet 29:165–167

    CAS  PubMed  Google Scholar 

  11. Kumar D, Duggan MB, Mueller RF, et al (1997) Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: a possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi and Raas-Rothschild. Am J Med Gen 70:107–113

    CAS  Google Scholar 

  12. Bain AD, Barrett HS (1959) Congenital bowing of the long bones. Report of a case. Arch Dis Child 34:516–524

    CAS  PubMed  Google Scholar 

  13. Bain AD, Barrett HS (1971) Congenital bowing of the long bones. Lancet I:1244

    Article  Google Scholar 

  14. Rath F, Thalhammer O (1967) Prenatal bowing of the long tubular bones (in German). Z Kinderheilkd 98:63–74

    Article  CAS  PubMed  Google Scholar 

  15. Stueve A, Wiedemann HR (1971) Congenital bowing of the long bones in two sisters. Lancet 2:495

    Article  Google Scholar 

  16. Maroteaux P, Spranger J, Opitz JM, et al (1971) The campomelic syndrome (in French). Presse Méd 79:1157–1162

    CAS  Google Scholar 

  17. Lazjuk GI, Shved IA, Cherstvoy ED, et al (1987) Campomelic syndrome: concepts of the bowing and shortening in the lower limbs. Teratology 35:1–8

    Google Scholar 

  18. Maclean RN, Prater WK, Lozzio CB (1983) Brief clinical report: skeletal dysplasia with short, angulated femora (kyphomelic dysplasia). Am J Med Gen 14:373–380

    CAS  Google Scholar 

  19. Lipson AH, Kozlowski K, Barylak A, et al (1991) Syndrome of tight-angle bowed femora, absence of fibulae and digital anomalies: two further cases. Am J Med Gen 41:176–179

    CAS  Google Scholar 

  20. Langer R, Al-Gazali L, Haas D, et al (2004) Osseous abnormalities and CT findings in Stueve-Wiedemann syndrome (SWS) (in German). RoFo 176:203–221

    PubMed  Google Scholar 

  21. Antley R, Bixler D (1975) Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects Orig Artic Ser 11:397–401

    CAS  Google Scholar 

  22. Hurley ME, White MJ, Green AJ, et al (2004) Antley-Bixler syndrome with radioulnar synostosis. Pediatr Radiol 34:148–151

    Google Scholar 

  23. Houston CS, Opitz JM, Spranger JW, et al (1983) The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971. Am J Med Gen 15:3–28

    CAS  Google Scholar 

  24. Snure H (1929) Intrauterine fracture. Radiology 13:362

    Google Scholar 

  25. Fisher RM, Cremin BJ (1976) Limb defects in the amniotic band syndrome. Pediat Radiol 5:24–29

    Google Scholar 

  26. Angle CR (1954) Congenital bowing and angulation of long bones. Pediatrics 13:257–268

    Google Scholar 

  27. Middleton DS (1934) Studies on prenatal lesions of striated muscle as a cause of congenital deformity. Edinb Med J 41:401

    Google Scholar 

  28. Conway TJ (1958) Prenatal bowing and angulation of long bones: a description of its occurrence in a brother and a sister. Am J Dis Child 95:305–308

    CAS  Google Scholar 

  29. Roth SI, Jimenez JF, Husted S, et al (1982) The histopathology of camptomelia (bent limbs). A Dyschondrogenesis. Clin Orthop 167:152–159

    Google Scholar 

  30. Pazzaglia UE, Beluffi G (1987) Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories. Pediatr Radiol 17:50–55

    Google Scholar 

  31. Duraiswami PK (1952) Experimental causation of congenital skeletal defects and its significance in orthopaedic surgery. J Bone Joint Surg 34B:646

    Google Scholar 

  32. Duraiswami PK (1950) Insulin-induced skeletal abnormalities in developing chickens. Br Med J 2:384

    CAS  PubMed  Google Scholar 

  33. Hall BK (1972) Skeletal defects in embryonic chicks induced by administration of Beta-Aminopropionitrile. Teratology 5:81–88

    CAS  PubMed  Google Scholar 

  34. Nogami H, Oohira A, Kuroyanagi M, et al (1986) Congenital bowing of long bones: clinical and experimental study. Teratology 33:1–7

    Google Scholar 

  35. Kwok C, Weller PA, Guioli S, et al (1995) Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal. Am J Hum Genet 57:1028–1036

    CAS  PubMed  Google Scholar 

  36. Giordano J, Prior HM, Bamforth JS, et al (2001) Genetic study of SOX9 in a case of campomelic dysplasia. Am J Med Genet 98:176–181

    Article  CAS  PubMed  Google Scholar 

  37. Bell DM, Leung KK, Wheatley SC, et al (1997) SOX9 directly regulates the type-II collagen gene. Nat Genet 16:174–178

    CAS  PubMed  Google Scholar 

  38. Cordone M, Lituania M, Zympatti C, et al (1989) In utero ultrasonographic features of campomelic dysplasia. Prenatal Diagn 9:745–750

    CAS  Google Scholar 

  39. Spirt BA, Oliphant M, Gottlieb RH, et al (1990) Prenatal sonographic evaluation of short-limbed dwarfism: an algorithmic approach. RadioGraphics 10:217–236

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Paediatric Radiology, University of Cologne, Joseph-Stelzmann-Strasse 9, Cologne, Germany

    Friederike Körber & Gabriele Benz-Bohm

  2. Department of Paediatrics, University of Cologne, Cologne, Germany

    Eckard Schönau

  3. Department of Paediatric Radiology, Klinikum Krefeld, Krefeld, Germany

    A. Eldad Horwitz

Authors
  1. Friederike Körber
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Eckard Schönau
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. A. Eldad Horwitz
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Gabriele Benz-Bohm
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Friederike Körber.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Körber, F., Schönau, E., Horwitz, A.E. et al. Isolated femoral hypoplasia: an intrauterine differential diagnosis to campomelia. Pediatr Radiol 35, 641–646 (2005). https://doi.org/10.1007/s00247-004-1375-5

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00247-004-1375-5

Keywords

Search

Navigation