Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature

Abstract

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945) is a rare congenital disorder. Only seven patients have been reported to date, and the etiology of this syndrome is unknown. Autosomal dominant inheritance with variable expression has been suggested based on the presence of minor features in some parents and the fact that neither parental consanguinity nor pairs of affected siblings were observed. We report on the first patient with this syndrome who was born to consanguineous parents. Neither the mother nor the father, who were first cousins, had clinical features suggestive of a manifestation of brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome. The patient had no siblings, and the family history was unremarkable. Clinical problems included brachydactyly of hands and feet, splaying of fingers and toes, preaxial polydactyly of feet, bilateral tibial aplasia, shortened radius and ulna, and characteristic facial dysmorphic signs. The detailed description of this patient adds to our knowledge of the clinical manifestations of brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome and will eventually also contribute to the elucidation of the underlying gene defects.

This is a preview of subscription content, access via your institution.

Fig. 1
Fig. 2

References

  1. 1.

    Baraitser M, Stewart F, Winter RM, Hall CM, Herman S, Nevin NC (1997) A syndrome of brachyphalangy, polydactyly and absent tibiae. Clin Dysmorphol 6:111–121

    CAS  Article  PubMed  Google Scholar 

  2. 2.

    Bernardi P, Graziadio C, Rosa RF, Dall’Agnol L, Zen PR, Paskulin GA (2009) Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia. Am J Med Genet A 149A:1532–1538

    Article  PubMed  Google Scholar 

  3. 3.

    Faravelli F, Di Rocco M, Stella G, Selicorni A, Camera G (2001) Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings. Clin Dysmorphol 10:101–103

    CAS  Article  PubMed  Google Scholar 

  4. 4.

    Olney RS, Hoyme HE, Roche F, Ferguson K, Hintz S, Madan A (2001) Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection. Am J Med Genet 103:295–301

    CAS  Article  PubMed  Google Scholar 

  5. 5.

    Pierson DM, Taboada EM, Lofland GK, Begleiter ML, Smith GS, Hall F, Butler MG (2001) Total anomalous pulmonary venous connection and a constellation of craniofacial, skeletal, and urogenital anomalies in a newborn and similar features in his 36-year-old father. Clin Dysmorphol 10:95–99

    CAS  Article  PubMed  Google Scholar 

  6. 6.

    Wechsler SB, Lehoczky JA, Hall JG, Innis JW (2004) Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis. Clin Dysmorphol 13:63–69

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

We thank the parents of the patient for their support and their consent to publish clinical photographs.

Conflict of interest

The authors declare that they have no conflict of interest.

Author information

Affiliations

Authors

Corresponding author

Correspondence to Andreas Tzschach.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Shafeghati, Y., Kahrizi, K., Najmabadi, H. et al. Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature. Eur J Pediatr 169, 1535–1539 (2010). https://doi.org/10.1007/s00431-010-1267-7

Download citation

Keywords

  • Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome
  • Consanguinity
  • Polydactyly
  • Tibial aplasia