BMC research notes · 2013
Congenital vertical talus in Cri du Chat Syndrome: a case report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Khader Amani, Huntley James S
Аннотация
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.
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.