Ulnar dimelia - a review of 24 cases.

Ulnar dimelia is a very rare unilateral congenital upper limb anomaly (CULA) affecting the whole extremity. Treatment remains difficult because of the complexity and multi-level involvement. Twenty-four cases with duplicated ulna, absent radius and polydactyly from seven European centres were reviewed according to a structured list of parameters. At first consultation, median age 8 months (1-178), the shoulder movement was good in 17 patients or poor in six, and the median passive elbow range of motion was 20° (0°-90°). The resting wrist position was flexed in 22/24 patients. Following stretching and splinting, elbow surgery included resection of the lateral proximal ulna in 11 patients and muscle transfers in six to improve passive movement and increase active elbow motion, respectively. Tendon transfers were performed in eight wrists and a pollicization or pseudo-pollicization in 23 patients. Overall, patients demonstrate acceptable function postoperatively. Guidelines for treatment of this severe CULA are presented.Level of evidence: IV.

State of the art review: The pathogenesis and management of Madelung deformity.

Madelung deformity remains a fascinating yet unresolved challenge. There is an increasing awareness for early diagnosis by healthcare providers with improvement in diagnostic modalities, however, the exact mechanisms for the development of the deformity have still to be clarified. While some corrective procedures have been described to effectively address an established deformity, the existing literature lacks clear and evidence-based treatment guidelines on how to proceed in daily practice. This review article aims to summarize the current best evidence on this topic, including particular areas of controversy and areas with need for future research.

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. The existing data is reviewed and compared with the results of cohorts from two major congenital upper limb centres. Soft tissue distraction prior to radialization or centralization may offer benefit in ulnar growth and forearm length but there is a need for further research into the long-term functional outcomes of the various techniques available to determine the optimal choice for these children.Level of evidence: V.

[Differential therapeutic Approaches in congenital Malformations of the Hand]. / Differentialtherapeutische Zugänge bei kongenitalen Fehlbildungen an der Hand.

With the same clinical picture, different pathological changes must be expected in congenital malformations of the hand. Therefore, knowledge of these pathologies is crucial for planning the surgical approach. The approaches to common malformations are dealt with as examples. These include the double thumb and the syndactyly.In the case of the double thumb with an asymmetrical contour, the result is improved by augmenting parts of the redundant double thumb. In this case, a different incision is required than in simple resection.In the frequently performed syndactyly separations, there are many techniques that have been proven to achieve a good result. But only if principles such as local displacement flap plasty for commissure formation, tension-free wound closure, no longitudinal incisions and no bilateral preparation of a finger are observed here too. If it can be assumed preoperatively that a good surgical result cannot be achieved with the conventional technique of syndactyly separation, pre-treatment using an external fixator for transverse soft tissue distraction is the method of choice.The timing of surgery takes into account not to disturb the motor development of the affected person.

Inter- and intra-rater reliability of the Oberg-Manske-Tonkin classification of congenital upper limb anomalies.

On two occasions, five surgeons classified a cohort of 150 consecutive patients with congenital upper limb anomalies according to the Oberg-Manske-Tonkin classification (2020 update). We estimated reliability for the main anomaly code by means of Cohen's kappa (Κ) for ten rater pairs for five common and easily distinguishable anomalies (Group 1), and for all the other anomalies (Group 2). Inter-rater reliability for all patients (n = 150) was substantial, almost perfect for Group 1 (n = 64), but only moderate for Group 2 (n = 86). Intra-rater reliability was higher for all groups. We suggest simplifications to the Oberg-Manske-Tonkin classification and highlight specific requirements for instructions to increase its reliability.Level of evidence: I.

GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.

Loss of function variants of GLI3 are associated with a variety of forms of polysyndactyly: Pallister-Hall syndrome (PHS), Greig-Cephalopolysyndactyly syndrome (GCPS), and isolated polysyndactyly (IPD). Variants affecting the N-terminal and C-terminal thirds of the GLI3 protein have been associated with GCPS, those within the central third with PHS. Cases of IPD have been attributed to variants affecting the C-terminal third of the GLI3 protein. In this study, we further investigate these genotype-phenotype correlations. Sequencing of GLI3 was performed in patients with clinical findings suggestive of a GLI3-associated syndrome. Additionally, we searched the literature for reported cases of either manifestation with mutations in the GLI3 gene. Here, we report 48 novel cases from 16 families with polysyndactyly in whom we found causative variants in GLI3 and a review on 314 previously reported GLI3 variants. No differences in location of variants causing either GCPS or IPD were found. Review of published data confirmed the association of PHS and variants affecting the GLI3 protein's central third. We conclude that the observed manifestations of GLI3 variants as GCPS or IPD display different phenotypic severities of the same disorder and propose a binary division of GLI3-associated disorders in either PHS or GCPS/polysyndactyly.

[The interdisciplinary Microsurgeon - Results of the Consensus Workshop of the German Speaking Society for Microsurgery of Peripheral Nerves and Vessels]. / Der interdisziplinäre Mikrochirurg ­ Ergebnisse des Konsensus-Workshops der Deutschsprachigen Arbeitsgemeinschaft für Mikrochirurgie der peripheren Nerven und Gefäße am Beispiel unterschiedlicher Board-Formate.

Plastic and reconstructive surgery is characterized by a high degree of interdisciplinarity. Although Plastic surgery offers a wide range of reliable surgical treatment options independent departments for plastic and reconstructive surgery are not present in every university clinic or leading hospital in Germany. However, the ongoing improvements especially in the field of reconstructive microsurgery enabled and enhanced the treatment of complex defects in order to restore function as well as cosmetic outcome. Knowing the fact that patients are usually referred from other medical disciplines that are familiar with the development and treatment of the primary disease, creation of an interdisciplinary reconstructive treatment plan is crucial to guarantee best patient care. Thus, one of the future major challenges in plastic surgery will be the establishment of multidisciplinary boards in order to strengthen the role of plastic surgery within the medical system with the overall aim to solve complex reconstructive cases. During the 39th annual meeting of the German Speaking Society for Microsurgery of Peripheral Nerves and Vessels a workshop titled "The interdisciplinary microsurgeon" addressed this topic. In the present article we will highlight the consented results of the workshop and provide pitfalls and pearls concerning the implementation process of different multidisciplinary boards based on representative examples.

A Matched Comparative Study of the Bilhaut Procedure Versus Resection and Reconstruction for Treatment of Radial Polydactyly Types II and IV.

PURPOSE: To compare outcomes of the Bilhaut procedure with outcomes of conventional resection and reconstruction in radial polydactyly types II and IV. METHODS: Patients treated with the Bilhaut procedure were radiologically matched with patients treated with reconstruction. Evaluated outcomes included the Rotterdam assessment system, pinch strength, and thumb size measurements. To determine objectively which aesthetic outcome scores truly depended on surgical technique rather than observer opinion, we analyzed evaluations by a panel of 22 individuals with varying clinical experience who were blinded to the study protocol, using a linear mixed regression model. RESULTS: The Bilhaut procedure reduced the risk of suboptimal outcome for metacarpophalangeal joint instability in type IV radial polydactyly. Conversely, the Bilhaut procedure increased the risk of suboptimal scar appearance, residual prominence at amputation site, thumb size, and nail appearance. Tip pinch strength was more significantly reduced after the Bilhaut compared with reconstruction, whereas pulp circumference and nail width exceeded 100% of the unaffected contralateral hand after the Bilhaut reconstruction. There was no significant difference in active range of motion between procedures. Nail appearance proved the only aesthetic drawback of the Bilhaut procedure after adjustment for clinical experience. CONCLUSIONS: There was superior metacarpophalangeal joint stability after the Bilhaut procedure for radial polydactyly type IV, but this did not result in the presumed benefit to thumb strength. For experienced surgeons, both procedures resulted in comparable thumb active range of motion. However, aesthetic results were more likely perceived as pleasing after conventional reconstruction, even after adjusting for observer experience with regard to nail appearance. Despite possible benefits of modified Bilhaut procedures that preserve the nail, conventional reconstruction is the preferred procedure until otherwise proven. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic III.