Phalangeal Deformity Research Articles

Multiple drill-hole osteotomy in hand surgery \u2013 description of a novel application and proof of feasibility

BackgroundMalunion of phalangeal and metacarpal bones are often associated with impairment of hand function and pose a challenging task for treating surgeons in most cases. When applicable, corrective osteotomy is the treatment of choice, where the affected bone is cut to correct malalignment using chisels or saws. The use of these instruments is associated with several drawbacks especially in hand surgery. We aimed to determine whether a multiple drill-hole (MDH) osteotomy technique was suitable for performing corrective osteotomies of metacarpal and phalangeal bones.MethodsThis case series included 11 patients with malalignments or malunions of phalangeal or metacarpal bones. Corrective osteotomy was performed with the MDH technique. Follow-up examinations included clinical evaluations and radiography at frequent intervals, between 2 and 22 months postoperatively.ResultsIn all cases, planned osteotomies were technically feasible with the MDH technique. Apart from one case of a broken drillbit, no intraoperative or postoperative complication was recorded. All performed osteotomies healed within a mean of 6 weeks to radiological consolidation. In all cases, satisfactory results were achieved.ConclusionThe present study was the first to test MDH osteotomy for hand surgery. We demonstrated that MDH was feasible for corrective osteotomies of metacarpal and phalangeal deformities. Advantages included excellent feasibility for osteotomies performed at varying angles, precise execution, reduced risk of collateral damage, and flexibility for performing intra-articular osteotomies.

Congenital Multiple Metatarsal Synostoses with Proximal Phalangeal Deformities of the Foot.

Congenital foot abnormalities such as syndactyly, polydactyly, and brachymetatarsia are commonly seen by plastic surgeons. There have been reports of cases of congenital synostosis of the foot, with the majority of cases involving the rear foot and midfoot (Boccio et al. [1]). However, to the best of our knowledge, multiple metatarsal synostoses with proximal phalangeal deformities is extremely rare and independent from any syndromes and congenital anomaly patterns.

PHALANGES DEFORMITY ASSOCIATED WITH NEUROFIBROMATOSIS-1: A CASE REPORT

We present a case of phalangeal deformity in a 17-year-old boy. The deformity was caused by a neurofibroma associated with neurofibromatosis type 1, affecting the left ring finger. The mass was surgically resected. Recurrence had not occurred at three-year follow-up.

A 10.46 Mb 12p11.1–12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism

We present a 12-year-old girl with de novo karyotype 46,XX,del(12)(p11.1p12.1). Array CGH revealed in addition to a 10.466 Mb interstitial deletion on 12p11.1→12p12.1 a 0.191 Mb deletion on 2p16.3. The girl presented with mild facial dysmorphism consisting of microcephaly, hypertelorism, downslanting palpebral fissures, strabismus, broad nasal base, bulbous nose, short philtrum, micro/retrognathia, irregular tooth arrangement, phalangeal deformity in distal phalanges of hands, 5th finger camptodactyly, brachydactyly in feet, history of joint hypermobility, and scoliosis. She was considered to have mild to moderate mental retardation and ascertained for an autism spectrum disorder(ASD). Short arm of chromosome 12 interstitial deletions are rarely reported whereas point mutations and deletions of NRXN1, which is located on chromosome 2p16.3, are associated with ASDs. In this article we present and discuss the phenotypic consequences of a patient who was affected by deletions of two different chromosomal regions.

Erosive osteoarthritis: a current review of a clinical challenge

Erosive osteoarthritis, a less common subtype of osteoarthritis, is often described as a more severe form. This combination of cartilage degeneration with pathologic features suggestive of inflammatory synovial changes generally manifests in women around the time of menopause and hormonal levels as well as genetics are thought to play a role in its onset. The hands are most often involved with the sudden onset of palpable pain and swelling of the distal interphalangeal joints and proximal interphalangeal joints most frequently, but other joints have been reported. Phalangeal deformities appearing as wavy or subluxed as well as Heberden and Bouchard nodes can be seen clinically. Laboratory tests for systemic inflammation are usually normal but small studies looking at markers of bone resorption have shown increased levels in these patients. Radiographs reveal central joint erosions implying an inflammatory process which has been described in synovial specimens. Treatment options that have been tried include those utilized for general osteoarthritis as well as those for rheumatoid arthritis. Since prolonged disability in hand function can occur, further studies looking at its pathogenesis and targeted treatment options are needed.

Adaptive Evolution of 5'HoxD Genes in the Origin and Diversification of the Cetacean Flipper

The homeobox (Hox) genes Hoxd12 and Hoxd13 control digit patterning and limb formation in tetrapods. Both show strong expression in the limb bud during embryonic development, are highly conserved across vertebrates, and show mutations that are associated with carpal, metacarpal, and phalangeal deformities. The most dramatic evolutionary reorganization of the mammalian limb has occurred in cetaceans (whales, dolphins, and porpoises), in which the hind limbs have been lost and the forelimbs have evolved into paddle-shaped flippers. We reconstructed the phylogeny of digit patterning in mammals and inferred that digit number has changed twice in the evolution of the cetacean forelimb. First, the divergence of the early cetaceans from their even-toed relatives coincided with the reacquisition of the pentadactyl forelimb, whereas the ancestors of tetradactyl baleen whales (Mysticeti) later lost a digit again. To test whether the evolution of the cetacean forelimb is associated with positive selection or relaxation of Hoxd12 and Hoxd13, we sequenced these genes in a wide range of mammals. In Hoxd12, we found evidence of Darwinian selection associated with both episodes of cetacean forelimb reorganization. In Hoxd13, we found a novel expansion of a polyalanine tract in cetaceans compared with other mammals (17/18 residues vs. 14/15 residues, respectively), lengthening of which has previously been shown to be linked to synpolydactyly in humans and mice. Both genes also show much greater sequence variation among cetaceans than across other mammalian lineages. Our results strongly implicate 5'HoxD genes in the modulation of digit number, web forming, and the high morphological diversity of the cetacean manus.

An Unusual Combination of Cardiac Abnormalities in Ullrich -Noonan Syndrome

A 32 year old woman with Ullrich-Noonan syndrome was presented. Together with the various cardiac abnormallities, it was represented the interesting observation in that case. No sufficient data associated with the combination of bicuspid aorta, atrial septal defect and mitral stenosis was obtained in literature. Extra cardiac abnormalities such as webbed neck, cervical vertebral fusion, pectus carinatus and phalangeal deformities were present in our case.

Osteolysis With Detritic Synovitis A New Syndrome

A new pattern of osteolysis accompanied by detritic synovitis occurred in a 71-year-old woman. The patient had a severe, destructive, and multilating arthropathy of her hands, with distal phalangeal deformity. Radiographs outlined bone resorption of the appendicular and axial skeleton, with involvement of phalanges, metacarpals, metatarsals, clavicles, long bones, and spine. There was no notable occupational history nor laboratory evidence of hyperparathyroidism. Pathological evaluation revealed synovial ulceration and necrosis, and necrotic bone embedded with fibrotic synovium. This patient's abnormalities appear to represent a new pattern of osteolysis that can be distinguished from other disorders.

Fractures of the bones of the hand

A summary of the metacarpal and phalangeal deformities with general principles of management is illustrated in Figure 8. It is evident from these illustrations that the principle of aligning the mobile distal fragment with the less mobile proximal fragment is applicable to all fractures of the bones of the hand. 7 This rule simplifies the essentials of treatment and relieves one of remembering the mechanisms involved in the various displacements.