Preaxial polydactyly

A case of preaxial polydactyly and its surgical correction has been presented. The surgical management and postoperative complications were reviewed from the literature. The genetic basis for this type of polydactyly and its rate of occurrence were discussed. This patient's family exhibited an autosomal dominant gene with incomplete penetrance carried by the female members. The patient's family should be consulted regarding the possible genetic continuation of these anomalies in the female members of the family. The patient has had an unremarkable postoperative course with no reported adverse sequelae. The patient and surgeons were very satisfied with the final result. Figure 8 illustrates the surgical results 1 year postoperatively.     

Hydrometrocolpos and polydactyly

Two cases of hydrometrocolpos and polydactyly in female infants with persistent urogenital sinus are reported. The importance of considering hydrometrocolpos as the cause of an abdominal mass in female infants with polydactyly is stressed. Cytologic examination of the vaginal fluid may help in early diagnosis.     

Reconstruction of radial polydactyly

The spectrum that encompasses radial polydactyly can be categorized by the Wassel classification. Reconstruction of radial polydactyly depends on the size and quality of each of the thumbs. Most commonly, the ulnar thumb is larger and is maintained, whereas the smaller radial thumb is excised. In a Wassel type 4, after the redundant thumb is excised, the remaining thumb is centralized and aligned, and the radial collateral ligament of the maintained thumb is reconstructed. Other types of radial polydactyly are more complicated and require more complex reconstructions.     

Thumb polydactyly with symphalangism

Three cases of thumb polydactyly in which one of the components demonstrated symphalangism are reported. This is a very rare anomaly and only one similar case could be found in the literature. The rarity of this anomaly was explained by the occurrence of two different abnormal molecular events along two different limb growth axes. Finally, the anomaly does not fit into the classification systems described for thumb polydactyly.     

Fusion correction of polydactyly

Polydactyly is the most common aesthetic hand anomaly. Its surgical correction is indicated for aesthetic, but especially for functional reasons. Independent of the degree and location (pre- or postaxial) of the anomaly the creation of one single unit, which corresponds to the functional as well as to the cosmetical demands is the main purpose of the operative correction. The principle of this operative procedure is the fusion of the two fingers by using all existent structures. Therefore and due to the individuality of each case of polydactyly only after clear exposure identification of soft tissue structures is possible. Resecting procedures of bony and soft tissue structures which are performed before the fusion shall therefore be performed after the exposure and by preservation of all structures, which are necessary for growth, function, sensibility and blood supply. Using these principles clinical experiences which were made with this method are demonstrated while also postoperative results are shown.     

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. From the HPO dataset, all phenotypes describing preaxial polydactyly were obtained and related diseases were identified and selected. An overview was generated in a heatmap, in which the phenotypic contribution of 12 anatomical groups to each disease is displayed. Clinical cases were obtained from our hospital database and were reviewed in terms of phenotype, genotype, heredity, and diagnosed syndromes.

Results — From the HPO dataset, 21 diseases were related to preaxial polydactyly of the foot. The anatomical groups with the highest phenotypic contribution were lower limb, upper limb, and craniofacial. From our clinical database, we included 76 patients with 9 different diseases, of which 27 had a GLI3 mutation. Lower limb malformations (n = 55), upper limb malformations (n = 59), and craniofacial malformations (n = 32) were most frequently observed. Malformations in other anatomical groups were observed in 27 patients.

Interpretation — Preaxial polydactyly of the foot often presents with other upper and lower limb malformations. In patients with isolated preaxial polydactyly of the foot, referral to a clinical geneticist is not mandatory. In patients with additional malformations, consultation with a clinical geneticist is recommended. When additional limb malformations are present, analysis of GLI3 is most feasible.     

Delta formation in foot polydactyly

Congenital triangular deformity of the foot bones may occur in phalanges and metatarsals. As it resembles the Greek letter delta it is called "delta phalanx" and "delta metatarsal". We report on 19 delta formations in ten patients with foot polydactyly. Our long-term follow-up of these patients indicates four stages in the ossification process: no ossification of the epiphysis; appearance of single or multiple ossification centers; unification of the ossification centers with nonosseous tissue between the diaphysis and the epiphysis; and, finally, complete ossification. Pathogenetically, the delta formation may represent an intermediate stage in the bifurcation process of a polydactylic ray. Splitting longitudinally in a direction from distal to proximal, it is the root of the bifurcated toe ray.     

Delta formation in foot polydactyly

Summary Congenital triangular deformity of the foot bones may occur in phalanges and metatarsals. As it resembles the Greek letter it is called delta phalanx and delta metatarsal. We report on 19 delta formations in ten patients with foot polydactyly. Our long-term follow-up of these patients indicates four stages in the ossification process: no ossification of the epiphysis; appearance of single or multiple ossification centers; unification of the ossification centers with nonosseous tissue between the diaphysis and the epiphysis; and, finally, complete ossification. Pathogenetically, the delta formation may represent an intermediate stage in the bifurcation process of a polydactylic ray. Splitting longitudinally in a direction from distal to proximal, it is the root of the bifurcated toe ray.

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Zusammenfassung In polydaktylen Füßen können Rohrenknochen als dreieckige Fehlbildungen auftreten. Da these Anomalien dem griechischen Buchstaben ähneln, werden she Deltaphalanx oder Deltametatarsale genannt. Wir berichten über neunzehn solche Deltaformationen bei zehn Patienten mit polydaktylen Füßen. Die Beobachtung dieser Patienten vom ersten Lebensjahr his ins Erwachsenenalter läßt vier Entwicklungsstadien erkennen: Verknöcherung der Diaphyse ohne Ossifikation der Epiphyse; einzelne oder mehrere Ossifikationskerne der Epiphyse; Fusion dieser Epiphysenkerne mit Erhalt der knorpeligen Wachstumsfuge; knöcherne Kontinuität von Epiphyse and Diaphyse. Nach pathogenetischen Gesichtspunkten kann die Deltaformation ein Intermediärstadium im Gabelungsprozeß des polydaktylen Strahles darstellen. Da er sich von distal nach proximal teilt, kann die Deltaformation als Verzweigungsstelle des gedoppelten Zehenstrahls verstanden werden. Bei unseren Patienten waren der erste Zehenstrahl 13mal and der fünße 3mal betroffen. Bei einem Patienten waren der 1. and V. Zehenstrahl beider Füße befallen. Die Polydaktylie wurde nach ihrer Längsspaltung von distal nach proximal in einen distalen, mittleren and proximalen Phalanxtyp sowie einen metatarsalen and tarsalen Typ eingeteilt [2]. Bei unseren Patienten mit Deltaformationen im Fufßskelett fanden sich folgende Polydaktylieformen: Der distale und mittlere Phalanxtyp in jeweils einem Zehenstrahl, der proximale Phalanxtyp in sechs, der metatarsale Typ in neun and der tarsale in einem Strahl. Abgesehen von der Polydaktylie wurden andere angeborenen Anomalien bei sieben Patienten gesehen. Ein Erbgang war bei vier Patienten offenkundig. Diese Einteilung der Polydaktylie and der Verknöcherungsstadien von Deltaformationen sollen zum besseren Verständnis der Entwicklung von polydaktylen Füßen beitragen.

     

Treatment of preaxial polydactyly.

Preaxial polydactyly is the result of aberrant bifurcation of the embryonic preaxial anlage. Effective reconstruction of thumb duplication requires careful evaluation of all components. Skin, nail, bone, ligament, and musculoskeletal elements must be combined to reconstruct an optimal digit.     

Radially deviated type of thumb polydactyly

In duplication of the thumb there is sometimes radial deviation of one or both components. Eight such hands have been studied. The findings are described and treatment discussed.     

On-top and side-to-side plasties for thumb polydactyly

Introduction“On-top” and “side-to-side” plasties are techniques used for treating thumb duplications in which one thumb is adequate proximally and the other thumb contains a better pulp and nail distally. The detailed functional results of these techniques have not been reported in the literature. We report on two cases.Presentation of casesThe first case had Wassel type VI duplication. The ulnar duplicate had a functioning interphalangeal joint and the radial duplicate had a functioning carpometacarpal joint. “On-top” plasty was done by putting the distal part of the ulnar duplicate on top of the proximal part of the radial duplicate. At 10 years after surgery, the outcome was excellent both cosmetically and functionally. In the second case (Wassel type VII with a zigzag deformity), the radial duplicate had a hypoplastic distal phalanx with no nail. The ulnar duplicate had a functioning interphalangeal joint and the radial duplicate had a functioning carpometacarpal joint. “Side-to-side” plasty was done by joining both thumbs side-to-side at the level of the proximal phalanx. At 3 years after surgery, the outcome we considered acceptable cosmetically and excellent functionally.DiscussionWe could not find similar cases in the literature with detailed long-term postoperative results.Conclusion“On-top” and “side-to-side” plasties in the management of specific cases of thumb polydactyly obtain excellent functional results with excellent or acceptable cosmetic outcome.     

Sushi hand roll dressing for thumb polydactyly

Surgery for thumb polydactyly is a commonly performed orthopaedic procedure in Asia Pacific region. Despite extensive publications on topical dressing methods and dressing materials in paediatric wounds, there is no single design that affords a secure and yet comfortable post-operative wound dressing for thumb polydactyly. We have devised a new dressing method, which can easily be fabricated for such purpose from readily available materials in operation theatre.     

Rudimentary polydactyly: report of five cases

Rudimentary polydactyly was found in five patients. Surgical exploration of the papules revealed findings that have not been previously published. A cord-like structure arises from the bottom of the papule, with its proximal portion joining the neurovascular bundle of the digit. Histologic examination of the cord showed strong similarity to the neurovascular bundle of a finger. From these findings, we assume that rudimentary polydactyly may represent the amputation stump of pedunculated fingers.