Advances and Challenges in Prenatal Detection and Genetic Diagnosis of Upper Limb Anomalies: Analysis of a South London and Kent Cohort.

Objective: Prenatal detection and genetic diagnosis of congenital upper limb anomalies is particularly challenging due to both anatomical and technological factors. Hereby, we present a cross-sectional description of clinical and genetic findings in a 188-patient cohort.

Method: In this retrospective study, we present 188 cases with prenatally or postnatally detected upper limb anomalies, either isolated, associated with other anomalies, or syndromic.

and mutation-related spondylocarpotarsal synostosis: a case report.

Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year.

A Novel De Novo Missense Variant in Netrin-1 (NTN1) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly.

Microphthalmia, anophthalmia and coloboma (MAC) comprise a highly heterogeneous spectrum of congenital ocular malformations with an estimated incidence of 1 in 5000 to 1 in 30 000 live births. Although there is likely to be a genetic component in the majority of cases, many remain without a molecular diagnosis. Netrin-1 was previously identified as a mediator of optic fissure closure from transcriptome analyses of chick and zebrafish and was shown to cause ocular coloboma when knocked out in both mouse and zebrafish.

Phenotype-to-Genotype Description of Prenatal Suspected and Postnatal Discovered Upper Limb Anomalies: A Retrospective Cohort Study.

Objective: To evaluate phenotype and genotype characteristics of fetuses and children with upper limb anomalies.

Method: Retrospective cohort study of a prenatal and postnatal cohort with upper limb anomalies from January 2007 to December 2021 in a Fetal Medicine Unit. Prenatally on ultrasound suspected upper limb anomalies, such as transverse and longitudinal reduction defects, polydactyly, and syndactyly, and postnatally identified children referred to the Congenital Hand Team were evaluated separately.

Mirror hand and its management: a case report.

Background: Mirror hand is a rare congenital anomaly. Most of these cases are sporadic and associated with defective sonic hedgehog during embryogenesis. In this report, we present the case of a child with this rare congenital anomaly and its management.

Sustainable Primary Cell Banking for Topical Compound Cytotoxicity Assays: Protocol Validation on Novel Biocides and Antifungals for Optimized Burn Wound Care.

Thorough biological safety testing of topical therapeutic compounds and antimicrobials is a critical prerequisite for appropriate cutaneous wound care. Increasing pathogen resistance rates to traditional antibiotics and antifungals are driving the development and registration of novel chemical entities. Although they are notably useful for animal testing reduction, the gold standard in vitro cytotoxicity assays in continuous cell lines (HaCaT keratinocytes, 3T3 fibroblasts) may be discussed from a translational relevance standpoint.

Compound Heterozygous Variants in the Gene Associated with Skeletal Ciliopathies.

Ciliopathies are rare congenital disorders caused by defects in the structure or function of cilia, which can lead to a wide range of clinical manifestations. Among them, a subset known as skeletal ciliopathies exhibits significant phenotypic overlap and primarily affects skeletal development. This group includes several syndromes with overlapping but distinct clinical features, such as short-rib polydactyly syndrome (SRPS), Jeune asphyxiating thoracic dystrophy (JATD), Mainzer-Saldino syndrome (MZSDS), and cranioectodermal dysplasia (CED), also called Sensenbrenner syndrome.

Anatomical variation of quadratus plantae with flexor digitorum longus tendon along with unilateral polydactyly of the toes: a rare case report.

During routine dissection, we observed a unique case of unilateral polydactyly in the left foot of a 61-year-old male cadaver. We observed the medial head of the quadratus plantae (QP) muscle, which gave off an additional tendinous slip before joining the lateral head of QP. The 4th tendon of the flexor digitorum longus (FDL) was bifurcated into two tendinous parts after receiving a thin fibrous slip from the tendinous slip of the medial head of QP.

Differentiated and Untreated Juvenile Chondrocyte Sheets Regenerate Cartilage Similarly .

Osteoarthritis, a degenerative disease of articular cartilage and the leading cause of disability, is preceded by acute cartilage injury in a significant proportion of cases. Current auto- and allograft interventions are limited by supply and variability in therapeutic efficacy, prompting interest in tissue engineering solutions. Cell sheet tissue engineering, a scaffold-free regenerative technique, has shown promise in preclinical and clinical trials across various cell types and diseases.

Factors Affecting Appearance after Thumb Polydactyly Reconstruction - A Caregiver's Perspective in an Asian Population.

Current research on thumb polydactyly reconstruction focusses primarily on clinical evaluations. Details on aesthetic outcomes are relatively lacking. This study aims to address this gap by: (1) investigating the effectiveness of surgical treatment in achieving symmetrical thumb size, length and girth; (2) assessing aesthetic outcomes from a caregiver's perspective and (3) identifying key factors that influence aesthetic outcomes to inform strategies to improve surgical reconstruction.

Delayed identification of Bardet-Biedl syndrome.

Bardet-Biedl syndrome is a central obesity syndrome with a hereditary link affecting non-motile cilia that can be diagnosed clinically. Central obesity and polydactyly are important phenotypic features of this syndrome. Most cases are identified in early childhood.

Determining normal and abnormal reference values for corrective osteotomy for congenital hand malformation: a study on the zone of provisional calcification and bone axis.

Purpose: This study aims to establish reference values for the normal bone axis in children to assess the effectiveness of corrective osteotomy procedures and guide the treatment of congenital hand malformations and post-operative axis deviations.

Methods: A retrospective study was carried out between January 1, 2022, and October 9, 2024. A total of 192 individuals were included.

Radial Longitudinal Deficiency: New Perspectives on an Enduring Challenge.

Radial longitudinal deficiency (RLD) is a multidimensional congenital hand difference encompassing skeletal, musculotendinous, and joint components. Managing RLD remains challenging, with numerous surgical procedures over the past century failing to achieve a stable, mobile, growing wrist without recurrence of the deformity. This review investigates new therapeutic approaches for RLD, delving into genetic, embryological, and histological aspects, including proximal muscle involvement and causes of recurrence.

An 8-year review of upper limb congenital differences at a teaching hospital in Jordan: A retrospective study.

Objectives: To review the types of upper limb congenital differences in patients seen in a tertiary hospital in Jordan and to evaluate the effectiveness of the Oberg-Manske-Tonkin (OMT) system.

Methods: The medical charts and the X-rays of 222 patients with upper limb congenital differences were reviewed. All these cases were categorized using the OMT classification system.

Identification of two novel genetic variants for Ellis-van Creveld syndrome from a Chinese family through whole exome sequencing.

Objective: This study conducted genetic testing and analysis on the fetal tissue of a terminated pregnancy to clarify the cause of the fetal abnormalities.

Methods: A fetus with multiple malformations detected during mid-pregnancy was terminated. Trio whole exome sequencing (Trio-WES) was performed on the fetal tissue.