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Open Access Case Report

Congenital vertical talus in Cri du Chat Syndrome: a case report

Amani Khader1 and James S Huntley2*

Author Affiliations

1 University of Glasgow, University Avenue, G12 8QQ, Glasgow, United Kingdom

2 Consultant Orthopaedic Surgeon, Royal Hospital for Sick Children, G3 8SJ, Yorkhill, Glasgow, United Kingdom

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BMC Research Notes 2013, 6:270  doi:10.1186/1756-0500-6-270

Published: 13 July 2013

Abstract

Background

Congenital vertical talus is a rare deformity of the foot which can cause substantial pain and disability. Its incidence is approximately 1 in 100,000 live births. It has an association with other neuromuscular abnormalities and identified genetic syndromes in 50% of cases [1-5]. This report presents a case of congenital vertical talus in an infant with Cri du Chat Syndrome (CdCS) which - to our knowledge - has not been previously reported.

Case presentation

A 2 week-old Caucasian, male infant was referred for congenital feet abnormalities and a “clicky” hip at the post-natal baby check. The diagnosis was vertical talus of the right foot and oblique talus of the left foot. Treatment involved serial plaster casts in the “reverse-Ponseti” position until surgery 16 weeks later. The correction was maintained and the feet remain in good position at follow-up. General concern over the infant’s development, failing to reach appropriate milestones, prompted paediatric referral. Genetic analysis was finally carried out, giving a diagnosis of Cri du Chat syndrome at two and a half years of age.

Conclusion

In light of other reports of chromosomal anomalies causing congenital vertical talus, the learning point from this case is to investigate early for possible aetiologies, not only spinal/neuromuscular, but also those of a genetic basis.

Keywords:
Congenital vertical talus; Cri du chat syndrome; Flat foot