Edwards syndrome, also known as trisomy 18, is a rare chromosomal disorder associated with multiple congenital anomalies and high morbidity. This report presents the case of a three-month-old female infant diagnosed with Edwards syndrome, presenting classic phenotypic features, including low-set ears, micrognathia, and a rocker bottom foot. The infant\'s condition was further complicated by cardiac abnormalities and respiratory distress, necessitating a comprehensive, multidisciplinary approach involving pediatricians, cardiologists, and orthopedic specialists. The diagnostic journey involved addressing challenges related to respiratory distress syndrome, bronchiolitis, and cardiac complications. The management approach underscored the significance of individualized care tailored to the patient\'s unique needs. Genetic counseling played a pivotal role in providing essential support to the family facing the complexities associated with Edwards syndrome. This case report highlights the intricacies of Edwards syndrome and contributes to the ongoing discourse on refining clinical strategies for enhanced care and compassionate support. Additionally, it emphasizes the need for further research to advance our understanding of this condition and guide future interventions.

Fetal akinesia and contractures can be caused by mutations in various genes that lead to overlapping phenotypes with contractures, rocker bottom feet, cerebellar hypoplasia, ventriculomegaly, growth retardation, pulmonary hypoplasia, cystic hygroma and cleft palate in various combinations. Cerebro-oculo-facio-skeletal (COFS) syndrome is a condition resulting from defects in DNA repair pathway, and genes involved include ERCC1 (COFS), ERCC2 (XPD), ERCC5(XPG), and ERCC6 (CSB). It is a severe disorder presenting in fetal or neonatal period with microcephaly, arthrogryposis, prominent nose, and kyphoscoliosis, and leads to early death in childhood. We report a baby with antenatally identified arthrogryposis in which the homozygous pathogenic variant in exon 8 was identified in ERCC5 gene, by targeted next generation sequencing. This was predicted to cause premature chain termination in the protein. ERCC5 gene is mainly implicated in xeroderma pigmentosum, sometimes in COFS syndrome.

The surgical treatment of Charcot foot is a widely debated topic, with issues ranging from when to operate to how to properly correct a deformity. Historically, correction of a severe deformity was attempted in 1 acute surgical procedure that frequently required open reduction and internal fixation through large incisions. This 1-time procedure would often result in complications including under- or overcorrection of the deformity, neurovascular injury, or incision dehiscence leading to possible soft-tissue infection or osteomyelitis. This retrospective case series aims to evaluate stage 1 of a planned 2-stage approach to Charcot deformity correction, consisting of gradual modification with the use of computer-assisted external fixation. The purpose of using gradual correction was to safely and accurately correct the Meary and calcaneal inclination angles, which were measured using preoperative and postoperative digital radiographs. The procedure was performed on 18 Charcot foot deformities in 18 patients. Each of the feet had a notably significant rocker bottom deformity and most contained an ulceration. Complete ulcer healing was noted in 100% (13/13) of feet with an ulcer, and a statistically significant corrected Meary\'s (p < .05) and calcaneal inclination angle (p < .05) to within a normal range was achieved in all deformity corrections with few postoperative problems and complications noted. Average patient follow-up was 39.6 months with a minimum of at least 12 months necessary for inclusion in the study. Therefore, gradual Charcot deformity correction through the use of computer-assisted hexapod external fixation, demonstrates safe, accurate, and reproducible characteristics that adequately prepares the lower extremity for stage 2, the implantation of rigid internal fixation.

BACKGROUND: Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus.
OBJECTIVE: The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding.
METHODS: A retrospective review was performed of congenital vertical talus cases identified in our fetal center from 2006 to 2015. The prenatal US and MR imaging appearance of congenital vertical talus was evaluated and differentiation from congenital talipes equinovarus was assessed. Studies were evaluated for additional abnormalities affecting the central nervous system, face, limbs, viscera, growth and amniotic fluid. Imaging findings were recorded and correlated with outcomes when available.
RESULTS: Twenty-four cases of congenital vertical talus were identified prenatally (gestational age: 19-36 weeks). All 24 had prenatal US and 21 also underwent fetal MRI on the same day. There were no isolated cases of congenital vertical talus in this series; all 24 had additional anomalies identified prenatally. Sixteen cases had bilateral congenital vertical talus (67%). Additional anomalies were identified in the brain (15), spine (11), face (6), abdominal wall (3), heart (8) and other limbs (12). Chromosomal abnormalities were identified in 6 of 20 patients who underwent genetic testing. Overall, US held some advantage in detecting the abnormality: in 10 cases, US depicted congenital vertical talus more clearly than MRI; in 8 cases, US and MRI were equal in detection and in 3 cases, MRI was superior. In 9/15 cases with intracranial abnormalities, MRI was superior to US in demonstrating structural anomalies. Outcomes included termination (11), intrauterine fetal demise (1), stillbirth or immediate neonatal demise (5), lost to follow-up (1), and 6 survivors with postnatal follow-up.
CONCLUSIONS: In our series, there were no cases of isolated congenital vertical talus, with additional anomalies variably affecting multiple systems including the brain, spine, face, viscera and limbs. When congenital vertical talus is identified prenatally, a thorough search for additional anomalies is indicated. Fetal MRI can be a useful adjunct in confirming the diagnosis and further delineating additional anomalies, particularly in the brain and spine.

During human walking, the center of pressure under the foot progresses forward smoothly during each step, creating a wheel-like motion between the leg and the ground. This rolling motion might appear to aid walking economy, but the mechanisms that may lead to such a benefit are unclear, as the leg is not literally a wheel. We propose that there is indeed a benefit, but less from rolling than from smoother transitions between pendulum-like stance legs. The velocity of the body center of mass (COM) must be redirected in that transition, and a longer foot reduces the work required for the redirection. Here we develop a dynamic walking model that predicts different effects from altering foot length as opposed to foot radius, and test it by attaching rigid, arc-like foot bottoms to humans walking with fixed ankles. The model suggests that smooth rolling is relatively insensitive to arc radius, whereas work for the step-to-step transition decreases approximately quadratically with foot length. We measured the separate effects of arc-foot length and radius on COM velocity fluctuations, work performed by the legs and metabolic cost. Experimental data (N=8) show that foot length indeed has much greater effect on both the mechanical work of the step-to-step transition (23% variation, P=0.04) and the overall energetic cost of walking (6%, P=0.03) than foot radius (no significant effect, P>0.05). We found the minimum metabolic energy cost for an arc foot length of approximately 29% of leg length, roughly comparable to human foot length. Our results suggest that the foot\'s apparently wheel-like action derives less benefit from rolling per se than from reduced work to redirect the body COM.