BACKGROUND: Congenital talipes equinovarus (CTEV) is a rotational foot deformity that affects muscles, bones, connective tissue, and vascular or neurological tissues. The etiology of CTEV is complex and unclear, involving genetic and environmental factors. Nail-patella syndrome is an autosomal dominant disorder caused by variants of the LIM homeobox transcription factor 1 beta gene (LMX1B, OMIM:602575). LMX1B plays a key role in the development of dorsal limb structures, the kidneys, and the eyes, and variants in this gene may manifest as hypoplastic or absent patella, dystrophic nails, and elbow and iliac horn dysplasia; glomerulopathy; and adult-onset glaucoma, respectively. This study aimed to identify pathogenic variants in a fetus with isolated talipes equinovarus diagnosed by ultrasound in the second trimester, whose father exhibited dysplastic nails and congenital absence of bilateral patella.
METHODS: Prenatal whole-exome sequencing (WES) of the fetus and parents was performed to identify the genetic variant responsible for the fetal ultrasound abnormality, followed by validation using Sanger sequencing.
RESULTS: A novel heterozygous nonsense variant in exon 6 of LMX1B (c.844C>T, p.Gln282*) was identified in the fetus and the affected father but was not detected in any unaffected family members. This nonsense variant resulted in a premature termination codon at position 282, which may be responsible for the clinical phenotype through the loss of function of the gene product.
CONCLUSIONS: Our study indicating that a fetus carrying a novel nonsense variant of LMX1B (c.844C>T, p.Gln282*) can exhibit isolated talipes equinovarus, which expands the LMX1B genotypic spectrum and is advantageous for genetic counseling.

BACKGROUND: Postoperative complications of triceps surae intramuscular hemangioma surgery with talipes equinovarus have rarely been described, and the evidence for treatment is limited. The purpose of this case study was to report the new application of the Ilizarov technique, which successfully treated talipes equinovarus in adults after triceps surae intramuscular hemangioma.
METHODS: A 29-year-old woman treated with the Ilizarov technique for talipes equinovarus in the right leg after triceps surae intramuscular hemangioma surgery. The equinus deformity was roughly corrected after 2 years of follow-up, without significant secondary sequelae.
CONCLUSIONS: Talipes equinovarus caused by postoperative sequelae of intramuscular hemangioma was successfully corrected by the Ilizarov technique. The Ilizarov technique may be used for treating talipes equinovarus caused by various causes.

BACKGROUND: Bilateral congenital diaphragmatic hernia (CDH) is very rare. A few studies have reported the pathogenic role of 5p in CDH.
METHODS: A 23-year-old primigravida Japanese woman was referred for the following abnormal findings at 33 weeks of gestation: polyhydramnios, macroglossia, talipes equinovarus, and levocardia. A marker chromosome was detected by amniocentesis. Fluorescence in situ hybridization with whole chromosome paint 5 and nucleolus organizer region probes confirmed its origin from chromosome 5 and an acrocentric chromosome. The karyotype of the fetus was diagnosed as 47, XY, +mar. ish +mar(WCP5+). At 39 + 5 weeks, a 2462 g male infant was delivered, with a specific facial configuration. Bilateral CDH, hypoplasia of the corpus callosum, atrial septal defect, and hypothyroidism were also detected in the baby. The karyotype of the peripheral blood was consistent with that of the amniocentesis.
CONCLUSIONS: Genes coded on 5p might be associated with the pathogenesis of CDH; however, further investigation is required.

A 19-month-old male infant had presented to a paediatric orthopaedic clinic at the age of 6 months with meningomyelocele and bilateral feet deformity. The patient was admitted to the neonatal intensive care unit because of multiple congenital anomalies. These anomalies included meningomyelocele, right clubfoot, left vertical talus, imperforated anus, and an indirect hernia. Radiographs confirmed the diagnosis of right clubfoot and left-sided vertical talus. The course of management was delayed because of late diagnosis. At the age of 9 months, the patient underwent serial casting using the Ponseti and reverse Ponseti techniques for right clubfoot and left-sided vertical talus, respectively. The casting was performed weekly for 12 weeks. The right foot gained normal position before the left, but we decided to keep it in the cast until surgical correction was performed for both feet. The patient underwent right Achilles tendon tenotomy and casting and left Achilles tendon tenotomy, manipulation, and talonavicular reduction and k-wire fixation with casting. The casts remained for 3 and 6 weeks (clubfoot and vertical talus, respectively). The ultimate goal of the treatment was to produce braceable, plantigrade feet with the use of a well-padded knee ankle-foot orthosis to improve the quality of life.
راجع طفل عمره ١٩ شهرا عيادة جراحة العظام للأطفال عندما كان عمره ٦ أشهر يعاني من قيلة نخاعية سحائية وتشوه في القدمين. تم تنويم المريض في وحدة العناية المركزة لحديثي الولادة بسبب التشوهات الخلقية المتعددة. هذه التشوهات تضمنت قيلة نخاعية سحائية، وقدم فحجاء حنفاء يمنى، وكاحل عمودي أيسر، وشرج أرتق وفتق لا مباشر. أكدت الأشعة تشخيص القدم الفحجاء الحنفاء اليمنى والكاحل العمودي الأيسر. تأخر العلاج بسبب تأخير التشخيص. في عمر ٩ أشهر، بدأ المريض على معالجة متسلسلة باستخدام الجبس بطريقة بونستي للقدم اليمنى وطريقة بونستي العكسية للقدم اليسرى. تم عمل الجبائر أسبوعيا لمدة ١٢ أسبوعا. اكتسبت القدم اليمنى الوضع الطبيعي قبل اليسرى، ولكن قررنا إبقاءها في الجبيرة لحين عمل التصحيح الجراحي للقدمين. خضع المريض لبضع وتر العرقوب الأيمن والجبيرة، وبضع وتر العرقوب الأيسر والمعالجة ورد للمفصل الكاحلي الزورقي وتثبيت بأسلاك كيرشنر مع الجبيرة. استمرت الجبائر لمدة ٣و٦ أسابيع (القدم الفحجاء الحنفاء والكاحل العمودي على التوالي). وكان الهدف النهائي للعلاج هو الحصول على قدم قابلة لاستعمال الدعامة باستخدام جبيرة مبطنة جيدا للركبة والكاحل والقدم لتحسين جودة الحياة.

BACKGROUND: Spina bifida and congenital talipes equinovarus (CTEV) are common congenital malformations which may occur together and increase morbidity. Monozygous twins are particularly at risk of these malformations and discordance in one type of malformation is typical. The occurrence of both spina bifida and CTEV in one twin of a monozygotic pair is rare.
METHODS: A 22 year-old Cameroonian primigravida at 36 weeks of a twin gestation was received in our district hospital at the expulsive phase of labour on a background of sub-optimal antenatal care. A caesarean section indicated for cephalo-pelvic disproportion was performed and life monoamniotic male twins were extracted. The first twin was normal. The second twin had spina bifida cystica and severe bilateral CTEV. Routine postnatal care was ensured and at day 2 of life, the affected twin was evacuated to a tertiary hospital for proper management. He was later on reported dead from complications of hydrocephalus.
CONCLUSIONS: Spina bifida cystica with severe bilateral CTEV in one twin of a monoamniotic pair illustrates the complexity in the interplay of causal factors of these malformations even among monozygotic twins who are assumed to share similar genetic and environmental features. The occurrence and poor outcome of the malformations was probably potentiated by poor antenatal care. With postnatal diagnoses, a better outcome was difficult to secure even with prompt referral. Early prenatal diagnoses and appropriate counseling of parents are cardinal.

BACKGROUND: Club foot (CF) is characterized by multiple deformities such as varus, adductus and internal rotation of the forefoot. It is well-known and a frequent congenital disorder. CF can concurrently be seen with several diseases but it can rarely manifest as a component of any other syndrome. Ritscher-Schinzel syndrome, or cranio-cerebello-cardiac syndrome, is rarely seen and has autosomal recessive inheritance. It is characterized by cranio-facial, cerebellar and cardiac abnormalities. We report a case diagnosed as Ritscher-Schinzel syndrome concurrent with persistent CF.
METHODS: A two-year-old boy with persistent CF and concurrent congenital hip dysplasia. Despite successful serial casting and subsequent achilloplasty a clinical relapse was observed in our patient. After a detailed phenotypic evaluation, genetical tests and imaging technique the patient was diagnosed 3C Ritscher-Schinzel syndrome.
CONCLUSIONS: A comprehensive literature review did not show any reports about concurrent hip dysplasia and clubfoot in Ritscher-Schinzel syndrome. We report that CF may be associated with rare genetical abnormalities.
CONCLUSIONS: With this report we would like to raise awareness about the possible association of persistent CF with this rare genetical disorder, Ritscher-Schinzel syndrome. It should be included in differential diagnosis of patients with persistent CF.