UNASSIGNED: Congenital upper limb amelia is one of the extremely rare conditions. It is defined as a complete absence of upper limbs. It may present as isolated or with other associated anomalies.
UNASSIGNED: We present a case of a 2-year-old male child with congenital complete absence of bilateral upper limb. This male child was born after four female children. With the advancement in modern-era prenatal diagnostic facilities and a better understanding of fetal-maternal drug pharmacology, such cases are rare entity.
UNASSIGNED: Amelia is a very rare and challenging situation for clinicians. Regular prenatal checkup and knowledge of maternal and fetal drug interactions during pregnancy are key factors for prevention.

BACKGROUND: Body wall anomalies comprise a wide range of malformations. Limb-Body wall complex (LBWC) represents the most severe presentation of this group, with life threatening malformations in practically all the cases, including craniofacial, body wall defects, and limb anomalies. There is no consensus about its etiology and folding and gastrulation defects have been involved. Also, impaired angiogenesis has been proposed as a causative process.
METHODS: We present the case of a masculine stillborn, product of the first pregnancy in a 15-year-old, apparently healthy mother. He was delivered at 31 weeks of gestation due to an early rupture of membranes. He presented with multiple malformations including a wide body wall defect with multiple organ herniation and meromelia of the lower right limb.
CONCLUSIONS: LBWC represents a severe and invariably fatal pathology. There are no described risk factors, nevertheless, this case presented in a teenage mother, a well-described risk factor for other body wall anomalies. Its diagnosis allows us to discriminate between other pathologies that require prenatal or postnatal specialized treatment.

We report a case of spontaneous rare birth deformity. A case of Amelia and Phocomelia in a neonate. Amelia is a rare congenital disorder, even more so, is the combined amelia and phocomelia in a neonate. True Phocomelia was defined as the total absence of the intermediate segments of the limb. With the hand or foot (normal, almost normal, or malformed), directly attached to the trunk. The common aetiological association with phocomelia is from the use of thalidomide and genetic inheritance, as an autosomal recessive trait, involving chromosome 8. Isolated amelia is not generally considered to be of genetic origin. We present a neonate delivered by a 28-years multipara in Liberia, in West Africa Sub-Region, with amelia involving the two upper limbs, right lower limb and a Phocomelia involving the left lower limb (absence of tibia and fibula and feet with three toes). Africa is the only continent not included in the International Clearinghouse for Birth Defects Surveillance and Research. It is hoped that case reports of congenital limb deformities from Africa, will contribute to the formation of a database for birth defects shortly.
UNASSIGNED: None declared.

暂无摘要。

OBJECTIVE: To test the hypothesis that a bioarchaeological focus on health-related care provision can contribute to the currently limited understanding of social practice in Early Anglo-Saxon England (mid5th-early7th centuries AD).
METHODS: Published descriptions of pathology in 69 adult remains from the Early Anglo-Saxon cemetery of Worthy Park, southern England.
METHODS: Three case studies (one examining likely need for care at an individual level and two at a population level) were undertaken using the bioarchaeology of care approach.
RESULTS: Analyses indicate likely care provision (\'direct support\' and/or \'accommodation of difference\') to Worthy Park individuals experiencing temporary or permanent disability. Interpretation suggests community interdependence, cooperation, flexibility and tolerance of difference, as well as cultural and socioeconomic mechanisms for managing physical and social challenges of ageing.
CONCLUSIONS: This study provides proof of concept that bioarchaeology of care analysis can offer new insights into social practice in this period.
CONCLUSIONS: This study demonstrates that a bioarchaeological focus on caregiving behaviours in an Early Anglo-Saxon community extends modern thinking about social relations in post-Roman Britain, offering a model for future investigations into social practice in this, and potentially other, periods. More generally, it illustrates the richness of results achievable when combining bioarchaeological and historical research.
CONCLUSIONS: Reliance on secondary sources limited detail (and potentially accuracy) of interpretation possible.
UNASSIGNED: This study\'s approach should be further tested and refined, either through application to different Anglo-Saxon (or other historic) populations or in a more thorough analysis of the Worthy Park sample itself.

Congenital limb deformities, with a birth frequency of 0.55 per 1,000, are extremely rare prenatal defects that can present with either partial or complete lack of a limb or a specific portion of a limb. Amelia is a sporadic anomaly that is defined by the complete absence of a limb\'s skeletal elements, whereas hypomelia is defined by the incomplete development of a limb\'s skeletal elements. We present the case of a neonate with gross facial deformities in the form of the absence of both external ears and a saddle-shaped nose. The absence of the right lower limb bud was seen. The left lower limb was underdeveloped, noted only up to the thigh region with the hypoplastic distal part of the leg and absent foot. Genitals and the anus were absent. To the best of our knowledge, this case is exceptional in that congenital limb abnormalities are present at birth along with accompanying genital underdevelopment.

The purpose of this study is to present a case report of a patient with bilateral upper extremity phocomelia with progressive scoliosis, who underwent vertebral body tethering (VBT).
This is a case report on the use of VBT in a patient with scoliosis and bilateral congenital phocomelia, with 5 year follow-up.
A male patient with bilateral phocomelia had early onset scoliosis that progressed to 45° at age 10. Surgical options were discussed, including traditional VBT, posterior spinal fusion, growing rods, magnetically controlled growing rods, and vertical expandible prosthetic titanium ribs. These options would limit the flexibility of the spine. Given these pitfalls, VBT was chosen, as it would address the scoliosis while maintaining trunk flexibility. Preoperatively, he had 45° right main thoracic curve, bending to 22°; he was Risser 0 with open triradiate cartilage. He underwent T6-T11 thoracoscopic VBT, with postoperative correction to 37°. Postoperatively, the patient was able to continue to use his lower extremities for writing, feeding, and personal grooming. He had no postoperative complications. At 3 years, his curve was 21°, and at 5 years was 19°.
This case describes a novel technique for treating scoliosis in patients with bilateral phocomelia. Other forms of scoliosis surgical treatment limit motion of the spine. Due to this, we present VBT as an option for this unique set of patients for correcting scoliosis, while also preserving trunk flexibility for its role in feeding and self-care.

This study explored the effect of kinesthetic motor imagery training on reaching-to-grasp movement supplemented by a virtual environment in a patient with congenital bilateral transverse upper-limb deficiency. Based on a theoretical assumption, it is possible to conduct such training in this patient. The aim of this study was to evaluate whether cortical activity related to motor imagery of reaching and motor imagery of grasping of the right upper limb was changed by computer-aided imagery training (CAIT) in a patient who was born without upper limbs compared to a healthy control subject, as characterized by multi-channel electroencephalography (EEG) signals recorded before and 4, 8, and 12 weeks after CAIT. The main task during CAIT was to kinesthetically imagine the execution of reaching-to-grasp movements without any muscle activation, supplemented by computer visualization of movements provided by a special headset. Our experiment showed that CAIT can be conducted in the patient with higher vividness of imagery for reaching than grasping tasks. Our results confirm that CAIT can change brain activation patterns in areas related to motor planning and the execution of reaching and grasping movements, and that the effect was more pronounced in the patient than in the healthy control subject. The results show that CAIT has a different effect on the cortical activity related to the motor imagery of a reaching task than on the cortical activity related to the motor imagery of a grasping task. The change observed in the activation patterns could indicate CAIT-induced neuroplasticity, which could potentially be useful in rehabilitation or brain-computer interface purposes for such patients, especially before and after transplantation. This study was part of a registered experiment (ID: NCT04048083).

BACKGROUND: Congenital upper limb Amelia is one of the extremely rare conditions in the world. Defined as complete absence of a limb which may present as isolated defect or as a part of syndrome with associated anomalies.
METHODS: We report a case of a medically free 6-year-old boy with bilateral upper limb Amelia associated with right thoracolumbar idiopathic Scoliosis.
CONCLUSIONS: Treatment for early onset scoliosis includes either posterior spinal fusion and instrumentation, or Vertical Expandable Prosthetic Titanium Rib (VEPTR). The choice of care for our patient was decided to be VEPTR alone as definitive management. Up to our knowledge, there are very scanty articles published regarding treatment for such cases.
CONCLUSIONS: Patient underwent vertical expandable prosthetic titanium rib (VEPTR) application for his large 45-degree curve as a definitive treatment and still have his preoperative physical functions, in terms of using lower limbs in daily living activities.

Despite the numerous reports on the limb body wall complex (LBWC), this association has never been adequately defined. Amniotic bands (AB) are frequently present but their role remains unclear. Since most reports were based on clinical and often subjective diagnoses, the aim of this work was to define LBWC and the role of AB, minimizing subjectivity.
Data were obtained from the ECLAMC maternity hospitals network database. A total of 450 live and stillborn infants, born during 1967-2013, with AB or the LBWC were selected. A hierarchical cluster analysis was used to classify cases into homogeneous groups (sharing similar associated defects); robustness of the classification was confirmed with a discriminant analysis. The frequency of associated defects was compared among groups; those whose frequency differed significantly were included in a logistic regression to establish their association within each group.
The cluster analysis identified two groups: a body wall defect (BWD) predominating in one, AB in the other. These groups were further divided into: BWD (cases with only BWD), AB (with only AB), BWD + AB, and NONE (with neither). Association with caudal defects and lower limb amelia was observed for BWD, with cephalic defects and upper limb amputations for BWD + AB.
The results, obtained with the least possible subjectivity, indicated that BWD and BWD + AB are different conditions. Since BWD specifically associates with amelia, we propose that this defect and not any limb deficiency should be considered as inclusion criterium and that it should be included in the BWD acronym as LBWC.