Upper and Lower Limb Anomalies in Craniofacial Microsomia and Its Relation to the OMENS+ Classification: A Multicenter Study of 688 Patients.

Background: Craniofacial microsomia (CFM) is characterized by several malformations related to the first and second pharyngeal arch. Patients typically present with facial asymmetry, but extracraniofacial organ systems might be involved, including limb anomalies. The purpose of this study was to analyze the occurrence of upper and lower limb anomalies in CFM patients.

The unsolved problem of radial longitudinal dysplasia: how can we reliably prevent recurrence, preserve growth and optimize function?

Congenital radial longitudinal dysplasia remains an 'unsolved problem' in hand surgery. The challenges presented by the skeletal deficiency of the distal radius and soft tissue dysplasia of the severe radial longitudinal deficiency have been addressed by a number of techniques that aim to stabilize the position of the hand relative to the forearm and optimize forearm growth and hand function. Analysis of hand function and position in these children is difficult because of the abnormal 'wrist' mechanics, and the published results of the techniques used to date often lack a standardized approach and importantly the perception of function from the patient's perspective.

Quality of life in children with preaxial polydactyly of the foot in comparison to adults, postaxial polydactyly and healthy controls.

The effect of preaxial polydactyly of the foot on health-related quality of life (HR-QoL) has not been investigated in current literature. To improve counseling, we investigated HR-QoL in this patient group. A patient-control study was performed with children with preaxial polydactyly ( n  = 20), adults with preaxial polydactyly ( n  = 15), children with postaxial polydactyly ( n  = 15) and healthy controls ( n  = 62).

The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions.

Herein, we report on a large Polish family presenting with a classical triphalangeal thumb-polysyndactyly syndrome (TPT-PS). This rare congenital limb anomaly is generally caused by microduplications encompassing the Sonic Hedgehog (SHH) limb enhancer, termed the zone of polarizing activity (ZPA) regulatory sequence (ZRS). Recently, a pathogenic variant in the pre-ZRS (pZRS), a conserved sequence located near the ZRS, has been described in a TPT-PS Dutch family.

Determining the Minimally Important Change of the Michigan Hand outcomes Questionnaire in patients undergoing trigger finger release.

Introduction: The Michigan Hand outcomes Questionnaire (MHQ) is a widely used instrument to evaluate treatment results for hand conditions. Establishing the Minimally Important Change (MIC) is essential for interpreting change in outcome that is clinically relevant.

Purpose Of The Study: The purpose of this study was to determine the MIC of the MHQ total and subscale scores in patients undergoing trigger finger release.

Lateral Versus Medial Hallux Excision in Preaxial Polydactyly of the Foot.

Background: In preaxial polydactyly of the foot, the choice for excision of the lateral or medial hallux is not straightforward, in particular with proximal phalangeal (type IV) and metatarsal (type VI) duplication, because of anatomical characteristics. We evaluated whether medial or lateral hallux excision gives better outcomes in these duplication types, to help clinical decision making.

Methods: Children with type IV or type VI duplication (n=14, age: 4.

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.

Introduction: Pathogenic DNA variants in the GLI-Kruppel family member 3 ( gene are known to cause multiple syndromes: for example, Greig syndrome, preaxial polydactyly-type 4 (PPD4) and Pallister-Hall syndrome. Out of these, Pallister-Hall is a different entity, but the distinction between Greig syndrome and PPD4 is less evident. Using latent class analysis (LCA), our study aimed to investigate the correlation between reported limb anomalies and the reported variants in these GLI3-mediated polydactyly syndromes.

Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes.

Background: The of zone of polarizing activity regulatory sequence (ZRS) is a regulatory element residing in intron 5 of LMBR1 and regulates Sonic Hedgehog expression in the limb bud. Variants in the ZRS are generally fully penetrant and can cause triphalangeal thumb (TPT) and polydactyly in affected families.

Objective: In this report, we describe two families with mild phenotypical presentation.

Outcome of Recurrent Surgery in Dupuytren's Disease: Comparison with Initial Treatment.

Background: There are multiple studies about the effectiveness of primary treatment in Dupuytren's disease. However, such studies concerning treatment effectiveness of recurrent disease are scarce. Therefore, the primary aim of this study was to compare treatment effectiveness of initial and repeated surgery in patients with Dupuytren's disease.

Congenital Forearm Pseudarthrosis, a Systematic Review for a Treatment Algorithm on a Rare Condition.

Background: A congenital forearm pseudarthrosis is a rare condition and is strongly associated with neurofibromatosis type 1. Several surgical techniques are described in the literature, but the most optimal treatment strategy remains unclear. This systematic review aims to develop a treatment algorithm that may aid in clinical decision making.

Correction: Recurrence of Dupuytren's contracture: A consensus-based definition.

[This corrects the article DOI: 10.1371/journal.pone.

Percutaneous Aponeurotomy and Lipofilling versus Limited Fasciectomy for Dupuytren's Contracture: 5-Year Results from a Randomized Clinical Trial.

Background: In the Dupuytren Rotterdam randomized controlled trial, percutaneous aponeurotomy with lipofilling (PALF) was as effective as limited fasciectomy in correcting primary Dupuytren's contracture after 1 year. The authors report the 5-year results of this trial, with a special focus on recurrence of contractures.

Methods: The authors invited all patients who had undergone PALF or limited fasciectomy to participate in a posttrial follow-up assessment.

A multidisciplinary review of triphalangeal thumb.

Despite being a rare congenital limb anomaly, triphalangeal thumb is a subject of research in various scientific fields, providing new insights in clinical research and evolutionary biology. The findings of triphalangeal thumb can be predictive for other congenital anomalies as part of an underlying syndrome. Furthermore, triphalangeal thumb is still being used as a model in molecular genetics to study gene regulation by long-range regulatory elements.

Triphalangeal thumb: clinical features and treatment.

Triphalangeal thumb is a rare congenital anomaly in which the thumb has three phalanges. Clinical presentation of triphalangeal thumb can vary considerably and can be present in both hands or unilateral. The thumb can be long with a finger-like appearance.

Documenting Combined Congenital Upper Limb Anomalies Using the Oberg, Manske, and Tonkin Classification: Implications for Epidemiological Research and Outcome Comparisons.

Purpose: Congenital upper limb anomalies (CULAs) exhibit a wide spectrum of phenotypic manifestations. To help the clinician evaluating this variety of CULAs, the Oberg, Manske, and Tonkin (OMT) classification was recently introduced. The OMT classification allows for documentation of combined hand anomalies.

A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.

Purpose: The zone of polarizing activity regulatory sequence (ZRS) is an enhancer that regulates sonic hedgehog during embryonic limb development. Recently, mutations in a noncoding evolutionary conserved sequence 500 bp upstream of the ZRS, termed the pre-ZRS (pZRS), have been associated with polydactyly in dogs and humans. Here, we report the first case of triphalangeal thumb-polysyndactyly syndrome (TPT-PS) to be associated with mutations in this region and show via mouse enhancer assays how this mutation leads to ectopic expression throughout the developing limb bud.

The Dutch version of the Oxford Ankle and Foot Questionnaire for Children: Useful for evaluation of pediatric foot problems in groups.

Background: The purpose of this study is to develop a Dutch version of the Oxford Ankle and Foot Questionnaire for Children (OxAFQ-c) to allow evaluation of pediatric foot care.

Methods: The OxAFQ-c was translated into Dutch, according to the ISPOR-guidelines. Children with different foot and ankle complaints completed the OxAFQ-c at baseline, after two weeks, and after 4-6 months.

Controversies in Poland Syndrome: Alternative Diagnoses in Patients With Congenital Pectoral Muscle Deficiency.

Purpose: Poland syndrome was first described as a deficiency of the pectoral muscle with ipsilateral symbrachydactyly. Currently, numerous case reports describe variations of Poland syndrome in which pectoral muscle deficiency is often used as the only defining criterion. However, more syndromes can present with pectoral muscle deficiency.

Preaxial polydactyly of the foot.

Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and syndromes. In order to give guidelines for diagnostics and referral to a clinical geneticist, we provide an overview of the presentation using a literature review and our own patient population. Patients and methods - The literature review was based on the Human Phenotype Ontology (HPO) project.

Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?

Triphalangeal thumbs (TPTs) are regularly caused by mutations in the ZRS in LMBR1. Phenotypic variability can be present in TPT-families. However, recent observations suggest an increased occurrence of severe phenotypes in the Dutch TPT-population.

Identification of Associated Genes and Diseases in Patients With Congenital Upper-Limb Anomalies: A Novel Application of the OMT Classification.

Purpose: Congenital upper-limb anomalies (CULA) can present as a part of a syndrome or association. There is a wide spectrum of CULA, each of which might be related to different diseases. The structure provided by the Oberg, Manske, and Tonkin (OMT) classification could aid in differential diagnosis formulation in patients with CULA.

Recurrence of Dupuytren's contracture: A consensus-based definition.

Purpose: One of the major determinants of Dupyutren disease (DD) treatment efficacy is recurrence of the contracture. Unfortunately, lack of agreement in the literature on what constitutes recurrence makes it nearly impossible to compare the multiple treatments alternatives available today. The aim of this study is to bring an unbiased pool of experts to agree upon what would be considered a recurrence of DD after treatment; and from that consensus establish a much-needed definition for DD recurrence.