Skip to main content
Log in

Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis

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

Abstract

We describe a woman and her daughter affected by brachydactyly type C. The unusual feature in the child included the striking ‘angel-shaped’ appearance of the proximal phalanges of the index and middle fingers of one hand, whereas more typical triangular epiphyses with elongation of their radial side were present at the same location in the opposite hand. It is suggested that this peculiar phalangeal configuration occurs as a transitory event in early or mid childhood in phalanges that are marked by severe ossification delay, which is most prominent at the level of the primary ossification centre.

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

Access this article

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

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

References

  1. Giedion A, Prader A, Fliegel C, et al (1993) Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker. Am J Med Genet 47:765–771

    CAS  PubMed  Google Scholar 

  2. Bachman K, Norman AP (1967) Hereditary peripheral dysostosis (3 cases). Proc R Soc Med 60:21–22

    CAS  PubMed  Google Scholar 

  3. Giedion A (1969) Peripheral dysostosis (PD)—a collective concept. Fortschr Geb Rontgenstr Nuklearmed 110:507–524

    CAS  PubMed  Google Scholar 

  4. Herman TE, Lee BC, McAlister WH (2002) Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases. Pediatr Radiol 32:452–456

    Article  PubMed  Google Scholar 

  5. Stöss H, Sieber E, Tietze HU (1951) Osteoglophone skelettdysplasie—variante einer generalisierten fibrösen dysplasie? Pathologe 12:161–166

    Google Scholar 

  6. Poznanski AK (1984) The hand in radiologic diagnosis. Saunders, Philadelphia, pp 166–167

    Google Scholar 

  7. Spranger JW, Brill PW, Poznanski A (2002) Bone dysplasias. An atlas of genetic disorders of skeletal development. Oxford University Press, New York, pp 364–366

    Google Scholar 

  8. Schwabe GC, Turkmen S, Leschik G, et al (2004) Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. Am J Med Genet 124:356–363

    Article  Google Scholar 

  9. Rowe-Jones JM, Moss AL, Patton MA (1992) Brachydactyly type C associated with shortening of the hallux. J Med Genet 29:346–348

    CAS  PubMed  Google Scholar 

  10. Haws DV (1963) Inherited brachydactyly and hypoplasia of the bones of the extremities. Ann Hum Genet 26:201–212

    CAS  PubMed  Google Scholar 

  11. Polinkovsky A, Robin NH, Thomas JT, et al (1997) Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet 17:18–19

    Article  CAS  PubMed  Google Scholar 

  12. Lin K, Thomas JT, McBride OW, et al (1996) Assignment of a new TGF-beta superfamily member, human cartilage-derived morphogenetic protein-1, to chromosome 20q11.2. Genomics 34:150–151

    Article  CAS  PubMed  Google Scholar 

  13. Debeer P, De Smet L, Fryns JP (2001) Intrafamilial clinical variability in type C brachydactyly. Genet Counsel 12:353–358

    CAS  Google Scholar 

  14. Thomas JT, Lin K, Nandedkar M, et al (1996) A human chondrodysplasia due to a mutation in a TGF-beta superfamily member. Nat Genet 12:315–317

    Article  CAS  PubMed  Google Scholar 

  15. Faiyaz-Ul-Haque M, Ahmad W, Wahab A, et al (2002) Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia. Am J Med Genet 111:31–37

    Article  PubMed  Google Scholar 

  16. Faiyaz-Ul-Haque M, Ahmad W, Zaidi SH, et al (2002) Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). Clin Genet 61:454–458

    Article  CAS  PubMed  Google Scholar 

  17. Caduff R, Giedion A, Briner J, et al (1994) A new type of a lethal osteochondrodysplasia with angel-shaped brachyphalangy. Virchows Arch 424:113–119

    Article  CAS  PubMed  Google Scholar 

  18. Castriota-Scanderbeg A, Zelante L, Masala S, et al (1999) Acrodysplasia, severe ossification abnormalities with short stature, and fibular hypoplasia. Am J Med Genet 84:68–73

    Article  CAS  PubMed  Google Scholar 

  19. Camera G, Ferrari G, Rossello MI, et al (2003) “Angel-shaped phalanx” in a boy with oromandibular-limb hypogenesis. Am J Med Genet 119:87–88

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Alessandro Castriota-Scanderbeg.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Castriota-Scanderbeg, A., Garaci, F.G. & Beluffi, G. Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis. Pediatr Radiol 35, 535–538 (2005). https://doi.org/10.1007/s00247-004-1362-x

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00247-004-1362-x

Keywords

Navigation