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

Abstract

BackgroundCongenital 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 presentationA 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.ConclusionIn 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.

Treatment of Congenital Vertical Talus: Comparison of Minimally Invasive and Extensive Soft-Tissue Release Procedures at Minimum Five-Year Follow-up

“…In some of the more rigid non-isolated vertical tali in which serial casting does not achieve full correction, then a selective capsulotomy of the anterior subtalar joint completes the correction 10 . Following the first description of this minimally invasive method for the treatment of congenital vertical talus 17,18 , many centers replicated a high success rate for achieving initial clinical and radiographic correction for both isolated and non-isolated vertical tali 10,[19][20][21][22][23][24][25][26]32 . However, the follow-up was less than two years in those studies, and none had a comparison cohort treated with traditional surgical techniques.…”

“…A minimally invasive technique for correcting vertical talus that relies primarily on serial casting was introduced almost ten years ago 17,18 . Multiple centers have reproduced the effectiveness of this technique in achieving initial correction (both radiographically and clinically), while maintaining excellent motion in the foot and ankle, for patients with both isolated and non-isolated vertical talus 10,[19][20][21][22][23][24][25][26] . In the present study, we compare the long-term outcomes of clinical and radiographic correction, foot function, and foot and ankle flexibility in patients with vertical talus (isolated and non-isolated) treated with either the minimally invasive method 17 or extensive soft-tissue release surgery.…”

The spectrum of microdeletian syndromes at the hospital of Lithuanian university of health sciences

“…Cri du Chat syndrome (CdCS) has a prevalence of 1 in 15000 to 1 in 50000 (AZMAN et al, 2008). The diagnostic age ranges from 3 months to 6 years (DANGARE et al, 2012;KHADER and HUNTLEY, 2013;KRGOVIC et al, 2014). The clinical features contain low weight at birth, microcephaly, distinct facial dysmorphism, abnormal dermatoglyphics, hypotonia, feeding problems, scoliosis, flat foot, pes varus, cardiac and neurological abnormalities, syndactyly and typical high-pitched cat-like cry.…”

“…Early identification of syndrome helps to adjust educational programs which improve many skills in childhood: ability to walk by them, make short sentences, feed and dress themselves (DANGARE et al, 2012). Further an earlier diagnosis of CdCS gives possibility to cure orthopaedic anomalies at young age of patients (KHADER and HUNTLEY, 2013).…”

Etiology and Treatment of Congenital Vertical Talus: A Clinical Review

“…Another important difference is that cord, 32 and Cri du Chat syndrome. 28 Stern et al 33 ; Levinsohn et al 34 gave transmission of congenital vertical talus by autosomal dominant trait with variable expression and incomplete penetrance. Genetic etiology of the congenital vertical talus is suspected in a child if any of these features are present.…”