Skip to main content
Log in

Phenotypic variability in the Baller-Gerold syndrome: Report of a mildly affected patient and review of the literature

  • Medical Genetics
  • Original Paper
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

We report a patient with a mild form of the Baller-Gerold syndrome (craniosynostosis-radial aplasia syndrome). The patient, a 3-year 3 month-old boy, has trigonocephaly with bilateral absent radii and thumbs. His growth parameters and psychomotor development have been normal. No visceral anomalies were found. This patient represents a new case of the rare mild form of the syndrome.

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.

Similar content being viewed by others

Abbreviations

BGS :

Baller-Gerold syndrome

References

  1. Anyane-Yeboa K, Gunning L, Bloom AD (1980) Baller-Gerold syndrome. Craniosynostosis-radial aplasia syndrome. Clin Genet 17:161–166

    PubMed  Google Scholar 

  2. Arena JP, Carlin ME (1988) A further delineation of Baller-Gerold syndrome (Abstract). Am J Med Genet 34:135

    Google Scholar 

  3. Baller F (1950) Radiusaplasie und Inzucht. Z Menschl Vererb Konstit Lehre 29:782–790

    Google Scholar 

  4. Boudeaux JM, Colon MA, Lorusso GD, Parro EA, Pelias MZ (1990) Baller-Gerold syndrome: an 11 th case of craniosynostosis and radial aplasia. Am J Med Genet 37:447–450

    Article  PubMed  Google Scholar 

  5. Dallapiccola B, Zelante L, Mingarelli R, Pellegrino M, Bertozzi V (1992) Baller-Gerold syndrome: case report and radiological review. Am J Med Genet 42:365–368

    Article  PubMed  Google Scholar 

  6. Feingold M, Sklower SL, Willner JP, Desnick RH, Cohen MM (1979) Cranyosinostosis-radial aplasia: Baller-Gerold syndrome. Am J Dis Child 133:1279–1280

    PubMed  Google Scholar 

  7. Galea P, Tolmie JL (1990) Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia). J Med Genet 27:784–787

    PubMed  Google Scholar 

  8. Gerold M (1959) Frakturheilung bei einem seltenen Fall kongenitaler Anomalie der oberen Gliedmaßen. Zentralbl Chir 84:831–834

    PubMed  Google Scholar 

  9. Greitzer LJ, Jones KL, Schnall BS, Smith DW (1974) Craniosynostosis-radial aplasia syndrome. J Pediatr 84:723–724

    PubMed  Google Scholar 

  10. Huson SM, Rodgers CS, Hall CM, Winter RM (1990) The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. J Med Genet 27:371–375

    PubMed  Google Scholar 

  11. Lewis ES, Rosenbaum PL, Paes BA (1991) Baller-Gerold syndrome associated with congenital hydrocephalus. Am J Med Genet 40:307–310

    Article  PubMed  Google Scholar 

  12. Lin AE, McPherson E, Nwokoro NA, Clemens M, Losken HW, Mulvihill JJ (1993) Further delineation of the Baller-Gerold syndrome. Am J Med Genet 45:519–524

    Article  PubMed  Google Scholar 

  13. Pelias MZ, Superneau DW, Thurmon TF (1981) A six report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome. Am J Med Genet 10:133–139

    Article  PubMed  Google Scholar 

  14. Temtamy SA, McKusick VA (1978) Craniosynostosis with radial defects. In: Bergsma D (ed) The genetics of hand malformations. Alan R. Liss, New York, 14:115–117

    Google Scholar 

  15. Van Maldergem L, Verloes A, Lejeune L, Gillerot Y (1992) The Baller-Gerold syndrome. J Med Genet 29:266–268

    PubMed  Google Scholar 

  16. Woon K-C, Kokich VG, Clarren SK, Cohen MM (1980) Cranosynostosis with associated cranial base anomalies: a morphologic and histologic study of affected like-sexed twins. Teratology 22:23–35

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Fuentes, F.J.R., Nicholson, L. & Scott, C.I. Phenotypic variability in the Baller-Gerold syndrome: Report of a mildly affected patient and review of the literature. Eur J Pediatr 153, 483–487 (1994). https://doi.org/10.1007/BF01957001

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01957001

Key words

Navigation