Advertisement

Pediatric Radiology

, Volume 47, Issue 13, pp 1793–1799 | Cite as

Prenatal congenital vertical talus (rocker bottom foot): a marker for multisystem anomalies

  • Eva I. RubioEmail author
  • Nimisha Mehta
  • Anna R. Blask
  • Dorothy I. Bulas
Original Article

Abstract

Background

Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus.

Objective

The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding.

Materials and methods

A retrospective review was performed of congenital vertical talus cases identified in our fetal center from 2006 to 2015. The prenatal US and MR imaging appearance of congenital vertical talus was evaluated and differentiation from congenital talipes equinovarus was assessed. Studies were evaluated for additional abnormalities affecting the central nervous system, face, limbs, viscera, growth and amniotic fluid. Imaging findings were recorded and correlated with outcomes when available.

Results

Twenty-four cases of congenital vertical talus were identified prenatally (gestational age: 19–36 weeks). All 24 had prenatal US and 21 also underwent fetal MRI on the same day. There were no isolated cases of congenital vertical talus in this series; all 24 had additional anomalies identified prenatally. Sixteen cases had bilateral congenital vertical talus (67%). Additional anomalies were identified in the brain (15), spine (11), face (6), abdominal wall (3), heart (8) and other limbs (12). Chromosomal abnormalities were identified in 6 of 20 patients who underwent genetic testing. Overall, US held some advantage in detecting the abnormality: in 10 cases, US depicted congenital vertical talus more clearly than MRI; in 8 cases, US and MRI were equal in detection and in 3 cases, MRI was superior. In 9/15 cases with intracranial abnormalities, MRI was superior to US in demonstrating structural anomalies. Outcomes included termination (11), intrauterine fetal demise (1), stillbirth or immediate neonatal demise (5), lost to follow-up (1), and 6 survivors with postnatal follow-up.

Conclusion

In our series, there were no cases of isolated congenital vertical talus, with additional anomalies variably affecting multiple systems including the brain, spine, face, viscera and limbs. When congenital vertical talus is identified prenatally, a thorough search for additional anomalies is indicated. Fetal MRI can be a useful adjunct in confirming the diagnosis and further delineating additional anomalies, particularly in the brain and spine.

Keywords

Anomalies Congenital vertical talus Fetus Foot Rocker bottom foot Magnetic resonance imaging Ultrasound 

Notes

Compliance with ethical standards

Conflicts of interest

None

References

  1. 1.
    Miller M, Dobbs MB (2015) Congenital vertical talus: etiology and management. J Am Acad Orthop Surg 23:604–611CrossRefPubMedGoogle Scholar
  2. 2.
    Merrill LJ, Gurnett CA, Connolly AM et al (2011) Skeletal muscle abnormalities and genetic factors related to vertical talus. Clin Orthop Relat Res 469:1167–1174CrossRefPubMedGoogle Scholar
  3. 3.
    McKie J, Radomisli T (2010) Congenital vertical talus: a review. Clin Podiatr Med Surg 27:145–156CrossRefPubMedGoogle Scholar
  4. 4.
    Alaee F, Boehm S, Dobbs MB (2007) A new approach to the treatment of congenital vertical talus. J Child Orthop 1:165–174CrossRefPubMedPubMedCentralGoogle Scholar
  5. 5.
    Jacobsen ST, Crawford AH (1983) Congenital vertical talus. J Pediatr Orthop 3:306–310CrossRefPubMedGoogle Scholar
  6. 6.
    Buntinx IM, Willems PJ, Spitaels SE et al (1991) Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency. J Med Genet 28:267–273CrossRefPubMedPubMedCentralGoogle Scholar
  7. 7.
    Ryu JK, Cho JY, Choi JS (2003) Prenatal sonographic diagnosis of focal musculoskeletal anomalies. Korean J Radiol 4:243–251CrossRefPubMedPubMedCentralGoogle Scholar
  8. 8.
    Westcott MA, Dynes MC, Remer EM et al (1992) Congenital and acquired orthopedic abnormalities in patients with myelomeningocele. Radiographics 12:1155–1173CrossRefPubMedGoogle Scholar
  9. 9.
    Thometz JG, Zhu H, Liu XC et al (2010) MRI pathoanatomy study of congenital vertical talus. J Pediatr Orthop 30:460–464CrossRefPubMedGoogle Scholar
  10. 10.
    Haveson SB (1959) Congenital flatfoot due to talonavicular dislocation (vertical talus). Radiology 72:19–25Google Scholar
  11. 11.
    Jeanty P, Romero R, d'Alton M et al (1985) In utero sonographic detection of hand and foot deformities. J Ultrasound Med 4:595–601CrossRefPubMedGoogle Scholar
  12. 12.
    Aguirre-Pascual E, Epelman M, Johnson AM et al (2014) Prenatal MRI evaluation of limb-body wall complex. Pediatr Radiol 44:1412–1420CrossRefPubMedGoogle Scholar
  13. 13.
    Chen CP, Lin CJ, Chang TY et al (2007) Second-trimester diagnosis of limb-body wall complex with literature review of pathogenesis. Genet Couns 18:105–112PubMedGoogle Scholar
  14. 14.
    Costa ML, Couto E, Furlan E et al (2012) Body stalk anomaly: adverse maternal outcomes in a series of 21 cases. Prenat Diagn 32:264–267CrossRefPubMedGoogle Scholar
  15. 15.
    Dicke JM, Piper SL, Goldfarb CA (2015) The utility of ultrasound for the detection of fetal limb abnormalities – a 20-year single-center experience. Prenat Diagn 35:348–353CrossRefPubMedPubMedCentralGoogle Scholar
  16. 16.
    Chen CP, Chern SR, Lin CC et al (2006) Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter). Prenat Diagn 26:313–320CrossRefPubMedGoogle Scholar
  17. 17.
    Piram A, Ortolan D, Peres LC et al (2003) Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation. Am J Med Genet A 120A:247–252CrossRefPubMedGoogle Scholar
  18. 18.
    Shrimpton AE, Levinsohn M, Yozawitz JM et al (2004) A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-tooth disease. Am J Hum Genet 75:92–96CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany 2017

Authors and Affiliations

  • Eva I. Rubio
    • 1
    Email author
  • Nimisha Mehta
    • 2
  • Anna R. Blask
    • 1
  • Dorothy I. Bulas
    • 1
  1. 1.Division of Diagnostic Imaging and RadiologyChildren’s National Health SystemWashingtonUSA
  2. 2.George Washington University School of MedicineWashingtonUSA

Personalised recommendations