Bilateral Talipes Research Articles

Pain behavior of children with bilateral idiopathic clubfoot undergoing Ponseti casting and the effect of non-pharmaceutical pain-relieving agents.

This study prospectively investigated the pain response and physiological parameters [heart rate (HR) and oxygen saturation (SpO2)] during sequential casting in bilateral clubfoot. Additionally, it explored the role of non-nutritive sucking and human care contact on the observed responses during casting. Subjects were allotted to control group (Group A with no intervention) and two intervention groups (Group B: non-nutritive sucking intervention, Group C: human care contact intervention). Neonatal Infant Pain Score (NIPS), heart rate (HR), and oxygen saturation (SpO2) were used to assess the response. The three groups matched in age and gender characteristics of the participants. Pain response was noted across all groups. The left foot demonstrated a statistically significant preexisting tachycardia which rose further during casting (p < 0.01). Intergroup comparisons revealed that the alteration for NIPS during casting was in following sequence (Group A > C > B, p < 0.00001). The effect of interventions offered in Group B and C lasted in the post-cast period as well (B > C). The clubfoot child exhibited moderate pain response during casting of both feet. A tachycardia was noted prior to initiation of second cast which further exaggerated with subsequent cast. Pacifier (non-nutritive sucking) intervention produced better control of pain response than human care contact during casting for both feet.

Results of Cross-Sectional Study of the Opinion from Parents of Children with Clubfoot on Medical Care via Ponseti Method in Outpatient Center of Surgery, Traumatology and Orthopedics

Background. Patients with clubfoot can have pain and functional disorders that lead to disability. Familiarity of obstetrician-gynecologists, general practitioners, surgeons with its early diagnosis and timely management may prevent disablement.Objective. The aim of the study is to analyze the opinion from parents of children with clubfoot on medical care via Ponseti method in outpatient center of surgery, traumatology and orthopedics.Methods. Cross-sectional study in the form of sociological survey (questionnaire) was carried out in N.F. Filatov Children’s City Hospital from March to December 2021 among parents of children with the following diagnoses: congenital bilateral clubfoot, congenital right clubfoot, congenital left clubfoot.Results. Respondents rated the quality of provided medical care and its availability, the hospital stay conditions by 10.0 points on the scale from 0 to 10. Territorial accessibility of medical care was estimated by 9.0 (7.0; 10.0) points, 30 out of 99 respondents (30.3%) required improvement in territorial accessibility (7 points out of 10 and below). Only 36.4% (36 out of 99) of children were sent to N.F. Filatov Children’s City Hospital for treatment by doctor of out-patient clinic. Others learned about this variant from the Internet, from acquaintances, etc. 10 out of 15 (15.2%) children with disabilities included in the study had difficulties in learning socially necessary skills. None of 10 children who have been diagnosed antenatally had any difficulties in learning socially necessary skills or disabilities. Mean age of disability was 10.6 ± 7.3 months. Children with disease diagnosed since birth had difficulties in learning socially necessary skills in 7.1% (2 out of 28) cases, and in 13.3% (8 out of 60) cases if diagnosed after birth (p = 0.356). Disability did not affect conditions in which children received treatment (14.6% and 20.0% of children under outpatient and inpatient treatment, respectively, had disabilities; p = 0.646). 26.7% of children with disabilities and only 11.9% of children without disabilities received treatment in hospital before the treatment (p = 0.218). 5.9% of children treated on outpatient basis had difficulties with learning socially necessary skills. Children treated on inpatient basis had difficulties with learning socially necessary skills in 35.7% cases (p = 0.005). The choice of outpatient or inpatient treatment did not depend on the presence of spina bifida (p = 0.276), children age (2.1 (0.7; 3.6) months vs 3.65 (0.6; 4.975) months, respectively; p = 0.309).Conclusion. Treatment can be delayed statistically significantly in case of late diagnosis, which is associated with the observed low awareness of doctors (working by the district principle) about specialized medical care. Ratio of children with disabilities and difficulties in learning socially necessary skills or disabilities is lower among patients with antenatal diagnosis. However, further studies are required for evaluation of these factors’ association.

Ponseti Treatment of Bilateral Idiopathic Clubfoot: Does the Hand Dominance of the Provider Make a Difference?

Introduction: Congenital talipes equinovarus (CTEV) is the commonest musculoskeletal deformity worldwide. The Ponseti technique is the goal standard for clubfoot treatment. During the correction phase, the provider’s right hand manipulates the right foot and the left hand, left foot. Often, one foot is ready for Achilles tenotomy before the other in bilateral clubfoot. Objective: To determine the effect of the provider’s hand dominance would have on bilateral clubfoot treated with the Ponseti technique. Method: This was a prospective cross-sectional study that analyzed idiopathic bilateral clubfoot patients aged 0 - 5 years and treated using the Ponseti technique at FMC Umuahia from October 2019 to September 2020. Informed consent and ethical clearance were obtained. The Pirani scores were obtained and compared at presentation and at each clinic visit. All trained manipulators were right-handed. Two-tailed t-test was used and a p-value less than 0.05 was deemed significant. Results: Forty-seven patients participated in the study with an M:F of 2.6:1 and mean age of 13.79 ± 13.39 months. Thirty-six patients (76.6%) had the same Pirani score on both feet at presentation, while the right and left feet were more severely affected in 8 and 3 cases respectively. The mean number of casts before readiness for tenotomy was 4.95 on the right and 5.28 on the left with p-value of 0.042. Conclusion: Though the right foot had a worse mean Pirani score on presentation, however, it required fewer casts before readiness for tenotomy than the left.

First Croatian Case of Double Aneuploidy: A Child With Klinefelter and Edwards Syndrome (48,XXY,+18) - Possible Causes and Contributing Factors.

We report a case of double aneuploidy in a preterm male newborn with karyotype 48,XXY,+18 whose mother was of advanced age and infected with the SARS-CoV-2 virus during the early stages of her pregnancy. The clinical features observed in the newborn included intrauterine growth retardation, dysmorphic facial features, overlapping fingers on both hands, respiratory distress syndrome, ventricular septal defect, patent ductus arteriosus, persistent pulmonary hypertension, and bilateral clubfoot, a phenotype that mainly correlates with Edwards syndrome (trisomy 18). To our knowledge, this is the first reported case of double aneuploidy in Croatia. This paper provides a detailed description of the clinical presentation and treatment strategies used, with the aim of providing valuable data for future recognition and management of similar cases. Furthermore, we discuss the mechanisms of nondisjunction that might account for this rare form of aneuploidy.

VACTERL Association in Kano, North-West Nigeria

VACTERL association is a term used to describe the simultaneous occurrence of at least 3 of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformation, tracheo-oesophageal fistula, renal dysplasia, and limb abnormalities. Most cases occur sporadically with an estimated incidence rate of 1 in 10,000 – 40,000 births. We report the case of an 11-month-old infant that presented with a complaint of recurrent cough and difficulty in breathing since 1 month of life. There is also the history of delayed motor developmental milestones. Physical examination and investigations revealed the presence of VACTERL association (bilateral talipes equinovarus deformity, multiple cardiac shunt lesions, and malformation of the 5th lumbar vertebrae with dural ectasia and lumbosacral scoliosis). She has been on oral diuretics and is currently on follow-up in pediatric cardiology, orthopedic, and neurosurgery clinics. This case report highlights the presence of a rare case of the VACTERL association in Kano, North-West Nigeria.

Perinatal prognosis in euploid fetus with cystic hygroma. Report of two clinical cases

Introduction: Cystic hygroma (CH) is a rare congenital anomaly of the lymphatic system. It is characterized by cystic lesions predominantly in the fetal neck and its prenatal diagnosis has been associated with increased perinatal mortality, aneuploidy, and congenital malformations. Case presentation: Two cases of cervical cystic hygroma diagnosed during the second trimester of gestation are presented, one of them associated with bilateral clubfoot. Both fetuses underwent karyotyping by amniocentesis, which established that both were euploid (46 XY and 46 XX), as well as fetal nuclear magnetic resonance imaging that showed no associated major malformations. In the interdisciplinary follow-up performed 1 year after birth, no findings consistent with genetic syndromes or neurodevelopmental alterations were observed in either of the 2 cases. Conclusions: CH is a marker of poor fetal prognosis; however, euploid fetuses with this condition have a better prognosis if their lesion resolves, do not progress to hydrops fetalis, and do not present other associated malformations. Euploid fetuses with CH require specific genetic studies for RASopathies, such as Noonan syndrome, which were not available in the clinical approach of the 2 cases presented; however, typical postnatal characteristics of the disease were not evident in the clinical genetic evaluation.

Increased Nuchal Translucency Without Aneuploidy in a Fetus: Abnormal Postnatal Radiograph and a Novel Mutation.

Increased Nuchal Translucency Without Aneuploidy in a Fetus: Abnormal Postnatal Radiograph and a Novel Mutation.

Case Report on Neglected bilateral feet Congenital Talipes Equinovarus with Callosities on the lateral aspect

Background: Congenital deformity of both feet is also called clubfoot. A common congenital orthopedic condition characterized by an excessively turned in the foot (equinovarus) and high medial longitudinal arch (cavus). If neglected the deformity can result in long‐term disability and pain. Interventions can be conservative such as splinting or stretching or surgical. Talipes equinovarus is one of the more common congenital abnormalities affecting the lower limb and can be challenging to manage. There is evidence for a genetic contribution to congenital talipes equinovarus etiology. Case Presentation: A 7 years old Male child came to the Pediatric department with a chief complaint of deformity of both feet since birth. No Interventions were done during the first month of the baby. And that serial casting was done on both feet for 1 year, yet no correction was observed. After 1 year of age posterior soft tissue release of the right leg. After every 10 days, serial casting was done and yet no correction was observed. Now came to the Pediatric department for further management. On arrival, a physical examination of the foot was carried out which shows swelling over the right leg along with tenderness. The Contrast Enhanced Computed Tomography was done later he was treated with antibiotics, analgesics, and antacids. Conclusion: It is a congenital deformity foot. The congenital deformity of the foot may occur lateral and bilateral. The congenital deformity of the bilateral foot is common in children. The bilateral deformity of the foot affects 80% or more. The most significant contributing component to its cause appears to be heredity. The prevalence of congenital talipes is uncommon and roughly equal in both sexes.

Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy

Autosomal dominant variants in LDB3 (also known as ZASP), encoding the PDZ-LIM domain-binding factor, have been linked to a late onset phenotype of cardiomyopathy and myofibrillar myopathy in humans. However, despite knockout mice displaying a much more severe phenotype with premature death, bi-allelic variants in LDB3 have not yet been reported. Here we identify biallelic loss-of-function variants in five unrelated cardiomyopathy families by next-generation sequencing. In the first family, we identified compound heterozygous LOF variants in LDB3 in a fetus with bilateral talipes and mild left cardiac ventricular enlargement. Ultra-structural examination revealed highly irregular Z-disc formation, and RNA analysis demonstrated little/no expression of LDB3 protein with a functional C-terminal LIM domain in muscle tissue from the affected fetus. In a second family, a homozygous LDB3 nonsense variant was identified in a young girl with severe early-onset dilated cardiomyopathy with left ventricular non-compaction; the same homozygous nonsense variant was identified in a third unrelated female infant with dilated cardiomyopathy. We further identified homozygous LDB3 frameshift variants in two unrelated probands diagnosed with cardiomegaly and severely reduced left ventricular ejection fraction. Our findings demonstrate that recessive LDB3 variants can lead to an early-onset severe human phenotype of cardiomyopathy and myopathy, reminiscent of the knockout mouse phenotype, and supporting a loss of function mechanism.

A Rare Case of Amyoplasia Type of Arthrogryposis Multiplex Congenita with Midfacial Hemangioma in a Neonate

Arthrogryposis multiplex congenita is a condition where multiple contractures of the joint develop, leading to deformity and restriction of movement. It is mostly seen in the neonatal period but the deformity may persist till adulthood also. A 1-day-old male baby presented with multiple deformities and contractures of all four limbs, with breathing difficulties. On examination, there was abnormal shoulder adduction with elbow extension and ulnar deviation of the wrist with thumb and finger deformity. In the lower limb, severe knee flexion with severe bilateral talipes equinus deformity was seen. A midfacial hemangioma and ear abnormalities were also present along with a skin dimple over both knees. The child was investigated fully for other congenital and systemic malformations. Finally, a diagnosis of the amyotrophic type of arthrogryposis congenita with facial hemangioma was made, which is a very rare association. The patient was managed by a multidisciplinary team approach and was discharged successfully. When a baby is presented with such a deformity, then the child should be screened fully and a genetic study should be done to prevent a recurrence of malformation in a subsequent pregnancy. The aim is to prevent early contractures and to restore limb function in the child and proper follow-up.

Genetic studies in isolated bilateral clubfoot detected by prenatal ultrasound

Objective To evaluate the contribution of genetic investigations in case of isolated bilateral clubfoot detected by routine prenatal ultrasound. Pathogenic Copy Number Variations is about 3.9% in fetuses with isolated clubfoot (uni- or bilateral). We hypothesize that this rate could be higher in a homogenous group of fetuses with bilateral clubfoot. Methods This retrospective single-center study included all women referred to our fetal-medicine center between 2013 and 2020 after ultrasound detection of isolated bilateral clubfoot. Genetic counseling was offered in which the woman was offered an amniocentesis for CMA and targeted investigation for Prader-Willi Syndrome (PWS), Steinert’s disease and Spinal Muscular Atrophy (SMA). Results 34 women were referred, 18 of them consented to undergo genetic studies by amniocentesis (18/34; 52.9%). Pathogenic copy number variations (CNVs) were found in 2/18 (11.1%) of cases. One of these CNVs was directly linked to the clubfoot pathology (a deletion in 5q31.1 containing PITX1 gene). Four fetuses (4/18, 22.2%) had variants of unknown significance (VUS). No PWS, SMA or Steinert’s disease was found. No case diagnosed with isolated clubfoot prenatally had additional anomalies postnatally. Conclusions In the case of bilateral isolated clubfoot detected at the antenatal ultrasound, invasive prenatal testing should be offered, and if accepted, a CMA should be done, as pathogenic variations were observed in up to 11.1% of women who got amniocentesis. The findings of this study do not support the systematic recommendation of molecular studies for PWS, SMA, Steinert’s disease.

Galactosialidosis presenting as non-immune hydrops in a newborn: A case report

Galactosialidosis is a rare autosomal recessive lysosomal storage disorder (LSD). It results from defects in glycoprotein degradation due to mutation in a single gene, encoded by the protective protein cathepsin A, (CTSA), located on chromosome 20q13.12. Most cases of non-immune hydrops fetalis (NIHF) nowadays being recognized are due to cardiac, lymphatic dysplasia, and hematological disorders. Inborn errors of metabolism account for NIHF in 1.3% of patients. Among metabolic disorders, around 14 LSDs have been reported as being associated with NIHF and congenital ascites. In the present case, we report an early infantile form of galactosialidosis with a novel homozygous miss-sense mutation c.319 A&gt;C (p. Ser107 Arg) in exon 3 of CTSA gene in a newborn who presented as non-immune hydrops. The baby also had coarse facies, wide anterior fontanelle, hypertelorism, bilateral congenital talipes equinovarus, hepatosplenomegaly, nephrocalcinosis, and disproportionately small limbs with metaphyseal irregularity. Gradually, he developed worsening cardiac functions and cardiomyopathy and succumbed to death on day 47 of life. Being an autosomal recessive disorder, it can recur in the next pregnancy and treatment is mainly supportive. Targeted prenatal diagnostics in subsequent pregnancies can help in early diagnosis.

Symmetry of Shoe Size and Calf Girth in Children With Treated Idiopathic Clubfoot: A Longitudinal Study.

Treatments for idiopathic clubfoot focus on obtaining a functional foot, typical gait pattern, and activity participation. Patients and families are also concerned about practical considerations regarding shoe wear and the appearance of the calf. The purpose of this study was to quantify whether children treated for idiopathic clubfoot have symmetry differences in shoe size and calf girth when presenting with unilateral versus bilateral involvement. Participants with a diagnosis of idiopathic clubfoot (treated with Ponseti or French functional methods) were prospectively recruited along with children who are typically developing. Shoe size and calf girth were measured at 5, 7, and 10 years of age. Sixty-five participants, 45 with a diagnosis of idiopathic clubfoot (26 unilateral and 19 bilateral) and 20 who were typically developing, began the study at age 5. Children with clubfoot treated with the Ponseti versus French methods showed no differences in shoe size asymmetry, calf girth asymmetry, or absolute calf girth at age 5. Participants with unilateral clubfoot demonstrated an average of 1.5 size smaller shoes for the involved side at all 3 ages. Participants with bilateral clubfeet had a significantly smaller, <0.75 size difference between both feet. Participants with unilateral clubfoot demonstrated about a 2cm smaller calf girth on the involved side compared with the uninvolved side at all 3 ages. Participants with bilateral clubfeet had a smaller, <0.5cm calf difference between sides. Calf girths for involved limbs were significantly smaller than for uninvolved limbs. Children with unilateral clubfeet can expect to need a smaller shoe on their involved side. Children with bilateral clubfeet can expect a minimal shoe size discrepancy between limbs. All limbs with clubfoot involvement can expect to have a smaller calf girth than limbs that are typically developing. Level II. This is considered a prognostic study-investigating the effect of a treated clubfoot on shoe size and calf girth. This is a lesser-quality prospective study in which <80% of persons completed follow-up.

Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome.

Ciliopathies are a class of inherited severe human disorders that occur due to defective formation or function of cilia. The RPGRIP1L (retinitis pigmentosa GTPase regulator-interacting protein1-like) gene encodes for a ciliary protein involved in regulating cilia formation and function. Mutations in RPGRIP1L cause ciliopathies associated with severe embryonic defects, such as Meckel-Gruber Syndrome (MKS). Here we report RPGRIP1L mutation analysis in a family diagnosed with MKS. The clinical manifestations of the fetus included thoraco-lumbar open neural tube defect with associated Chiari type II malformation and hydrocephalus, bilateral club feet, and single right kidney/ureter. Analysis of the parental DNA samples revealed that the father carried a previously reported mutation R1236C/+ whereas the mother had a novel splice site mutation IVS6+1 G > A/+ in RPGRIP1L. The splice site mutation resulted in the exclusion of in-frame exon 6 of RPGRIP1L (RPGRIP1L-∆Ex6) but expressed a stable protein in fibroblasts derived from the parents’ skin biopsies. The GFP-RPGRIP1L-∆Ex6 mutant protein exhibited relatively reduced ciliary localization in transiently-transfected cultured RPE-1 cells. Taken together, this study identifies a novel RPGRIP1L variant RPGRIP1L-∆Ex6, which in combination with RPGRIP1L-R1236C is associated with MKS. We also suggest that the deletion of exon 6 of RPGRIP1L leads to reduced ciliary localization of RPGRIP1L, indicating a plausible mechanism of associated disease.

Phenotype of COL3A1/COL5A2 deletion patients

IntroductionThe diagnosis of Ehlers-Danlos syndrome is usually based on well-defined diagnostic criteria and the result of DNA investigation. Classical (cEDS) and vascular type (vEDS) are the most prevalent subtypes and are caused by heterozygous pathogenic variants in COL5A1, COL5A2, COL1A1 or, respectively, in COL3A1. We describe 3 cases with contiguous deletions resulting in haploinsufficiency of both genes with relative mild features of connective tissue disease. Patients and methodsInformation on medical history, physical information, genetic results (CNV-analysis) and imaging were obtained from the medical file. ResultsThe first patient was a 31 yr old female, diagnosed during pregnancy after the NIPT result showed an interstitial deletion of 2.3 Mb on chromosome 2q32.2, confirmed by XON array. She had normal aortic diameters. She had no signs of cEDS or vEDS except for a relatively thin skin with increased visibility of the veins. Her father died suddenly of a type A/B dissection at the age of 62 years. The second patient was diagnosed at the age of 10 years after she was referred because of her intellectual disability, autism and constipation. She was known with a thin and vulnerable skin and had a bleeding after tooth extraction. Array showed a 14,5 Mb deletion of 2q31.3q32.3 (de novo). Imaging (latest age 17 years) did not show any abnormalities. The third patient, aged 28 years, was diagnosed during pregnancy with an interstitial deletion of circa 6 Mb on chromosome 2q31.1q32.2 3, previously shown in the fetus with bilateral club feet and hydronephrosis. She had no vEDS facial features and the skin was relatively thin. She has thoracolumbar scoliosis and dural ectasia. Imaging did not reveal any vascular abnormalities. Her son, born at 37 weeks 3 days. had club feet but not other clinical signs suggestive of classical or vascular EDS. DiscussionThree patients are described with a contiguous deletion of varying size encompassing the COL3A1 and COL5A2 gene. Due to the mild phenotype a diagnosis of EDS was not suspected and was found coincidental. Since two of the patients were pregnant without major complications these patients may require a less defensive, approach to pregnancy/delivery.

Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies in a Young Infant: First Case Entity of Casamassima-Morton-Nance Syndrome from Asia.

Casamassima-Morton-Nance syndrome (CMNS) includes a heterogeneous group of spondylocostal dysostosis along with anal atresia and genitourinary abnormalities. In 1981, Casamassima et al first described the syndrome in a fetus, and since then, only seven such cases have been reported so far. CMNS phenotype shows a significant clinical variability as documented in the reported cases. Etiology remains unknown yet, and it carries a poor prognosis. Here, we reported on a young female infant born out of nonconsanguineous marriage with normal karyotype and spondylocostal dysostosis, anal and genitourinary malformations suggesting CMNS. Ours is the eighth, and first case entity of CMNS reported from Asia as per the literature search. In our case, the additional feature of bilateral clubfoot has not been documented earlier in the literature. It extends the clinical spectrum of the syndrome and prompts us to consider it a close differential diagnosis to VACTERL (vertebral defects, anal atresia, cardiac malformations, tracheoesophageal fistula/esophageal atresia, renal anomalies, limb abnormalities) syndrome, which is commonly known and diagnosed. It also raises the question of whether cases of CMNS are being misdiagnosed as VACTERL syndrome due to its rarity.

First report of SYNE1 arthrogryposis multiplex congenita from Saudi Arabia with a novel mutation: a case report

BackgroundMyogenic Arthrogryposis Multiplex Congenita type 3 (AMC-3), is a rare congenital condition characterized by severe hypotonia, club feet, and multiple joint contractures often affecting both arms and legs which start prior to birth.Case presentationWe report a full-term neonate born to first-degree cousins from fourth-generation consanguineous families, who had with antenatal history of reduced fetal movements. At birth, he was noticed to have bilateral club feet, arthrogryposis, severe hypotonia, and absent deep tendon reflexes. The patient developed difficulty in breathing probably attributed to his generalized severe hypotonia, necessitating mechanical ventilation.His creatinine-phospho-kinase, electromyogram, and brain magnetic resonance imaging were normal. Whole-exome sequencing (WES) was requested for the genetic diagnosis of the case.WES identified a novel homozygous variant c.23415-3799C > G p. in the synaptic nuclear envelope protein1 [SYNE1] gene. Seven out of 20 bioinformatic in silico programs predicted a pathogenic effect for this variant. Segregation analysis of the variant in the parents and siblings revealed that both parents and one sibling were heterozygous for the same mutation which proved the variant significance and its autosomal recessive pattern of inheritance.ConclusionsAMC3 should be suspected in patients with decreased fetal movements, severe hypotonia, absent deep tendon reflexes, and arthrogryposis. SYNE1 gene mutations can be the underlying genetic defect and molecular genetic testing can prove the diagnosis.

Clinically Detected Leg Length Discrepancy in Patients With Idiopathic Clubfoot Deformity: Prevalence and Outcomes.

This study evaluates the prevalence and outcomes of patients with idiopathic clubfoot and clinically detected limb length discrepancy (LLD). This is a retrospective cohort study of idiopathic clubfoot patients in a Research Ethics Board-approved clubfoot registry. Patients with LLD ≥0.5 cm (LLD+) were compared with those with no or <0.5 cm LLD (LLD-). LLD was determined by documented clinical examination. Exclusion criteria included nonidiopathic clubfoot deformity, <2-year follow-up, and incomplete records. Of the 300 patients included, 27 (9.0%) had an LLD, of whom 23 patients had a unilateral clubfoot deformity. The prevalence of LLD was 15.3% and 2.67% in unilateral and bilateral clubfoot patients, respectively. The mean LLD was 1.21 cm (0.5 to 3.5 cm, SD: 0.78 cm) in LLD+ patients, with a mean of 1.27 cm (SD: 0.79 cm) in unilateral clubfoot patients and 0.88 cm (SD: 0.75 cm) in bilateral patients. The total number of casts applied in LLD+ unilateral clubfoot patients was significantly higher than in LLD- unilateral patients (9.5 vs. 6.8 casts; P =0.015). The overall relapse rate in all patients was 30.3% and was significantly higher in the unilateral only LLD+ group [relative risk (RR)=2.89] and the total LLD+ patient cohort (RR=1.68). The risk of repeat casting for relapse was also higher in the unilateral LLD+ group (RR=2.45) and the total LLD+ group (RR=1.87). The risk of surgery for relapse was significantly higher in the unilateral LLD+ group for any surgery ( P =0.046), and most specifically for open tendo-Achilles tenotomy ( P =0.008) and tibialis anterior tendon transfer ( P =0.019). There was no correlation between the severity of LLD and Pirani score at presentation. LLD was present in 9% of idiopathic clubfoot patients, and most were <2 cm. There is a significantly higher risk of relapse in patients with unilateral clubfoot and LLD. The risk of surgery overall was higher in all patients with a unilateral LLD. Assessment of LLD should be routinely performed in clubfoot patients. Level III.

A Floppy Infant with Facial Dysmorphism.

A Floppy Infant with Facial Dysmorphism.

Multidisciplinary Management of Arthrogryposis Multiplex Congenita Type 2A Case

Arthrogryposis multiplex congenita (AMC) is a congenital disorder characterized by nonprogressive multiple joint contractures affecting one or more areas of the body, muscle weakness, and fibrosis. This term includes a heterogeneous group of diseases, neurological, neuromuscular, and genetic or mechanical origin. Two types of classification have been developed: A clinical one (types I, II, and III) and an etiological one. A multidisciplinary approach is needed for better care and appropriate follow-up. It is a case of AMC type 2A. A girl, with an antecedent of low levels of amniotic fluid, presented at birth with multiple malformations and stiffness of several articulations: bilateral clubfoot, bilateral clubhand, temporomandibular joint involvement, postural torticollis, and congenital hip dislocation. She had also a small persistence of arterial canal and ambiguous external genitalia. The care was performed by a multidisciplinary team including a physiatrist, pediatric surgeon, physiotherapist, prosthetist, and orthotist. In infants with arthrogryposis, joint stiffness is maximal at birth. The first step is passive mobilizations before surgical joint treatment. Azbell et al. found in their study that at 9 months of age, many of this infant's impairments of body structure and function, functional activity limitations, and participation restrictions improved. The program of stretching, muscle strengthening, facilitation of motor skills, orthopedic intervention, and parent education may have contributed to this infant's progress. Prospective intervention studies exploring specific intervention strategies are needed to establish the plan of care for these patients. Arthrogryposis describes a set of joint contractures present from birth and nonprogressive. The common physiopathological mechanism is fetal immobility syndrome. Multidisciplinary care is necessary and should be early and continued to gain maximum autonomy and facilitate social integration.