Finger Deformity Research Articles

The treatment of Doyle types II and III mallet finger with the encircling fixation of a transplanted palmaris longus tendon

ObjectiveThis study aimed to investigate the clinical effect of the encircling fixation of a transplanted palmaris longus tendon in the treatment of Doyle types II and III mallet finger. MethodsThere were 115 cases of mallet finger deformity with Zone 1 extensor tendon rupture and defect. After debridement by first intention, the tendon bundles of the palmaris longus tendon were used to pass through the subcutaneous tunnel on the volar side of the base of distal phalanx, forming an encircling binding, crossing on the dorsal side. The tail of the tendon was then overlapped with the proximal extensor tendon and sutured. The finger extension position was fixed with plaster for four weeks. If the skin defect could not be closed directly, depending on the size of the skin defect, either a local turndown flap or a pedicled flap was used to cover the wound. ResultsThe patients were followed up for 3–12 months after the operation. According to Total Active Motion criteria, the clinical effect was excellent in 89 cases, good in 16 cases, acceptable in 7 cases, poor in 2 cases and inferior in 1 case. Conclusion: The treatment of Doyle types II and type III mallet finger with the encircling fixation of a transplanted palmaris longus tendon is simple and effective, with a low recurrence rate, few complications, and satisfactory results.

The Measurement of the Inclination Angle of the Hamate and Analysis of the Inclination Angle for the Rotation Deformity of the Little Finger in the Fixation of the Carpometacarpal Joint.

ObjectiveComplex base fractures of the fifth metacarpal bone and dislocation of the fifth carpometacarpal joint are more prone to internal rotation deformity of the little finger sequence after fixation with a transarticular plate. In the past, we have neglected that there is actually a certain angle of external rotation in the hamate surface of transarticular fixation. This study measured the inclination angle of the hamate surface relative to the fifth metacarpal surface for clinical reference.MethodsIn a prospective single‐center study, we investigated the tilt angle of 60 normal hamates. The study included thin‐layer computed tomography (CT) data from 60 patients from the orthopaedic clinic and inpatient unit from January 2017 to March 2020, including 34 men and 26 women who were 15~59 years old, average 35 years old. The CT data of 60 cases in Dicom format of the hand was input into Mimics and 3‐Matics software for three‐dimensional (3D) reconstruction and measuring the angle α between hamate surface and the fifth metacarpal surface. According to the possible placement of the transarticular plate on the fifth metacarpal surface, we measured the angle β between the hamate surface 1 and the fifth metacarpal surface and the angle γ between the hamate surface 2 and the fifth metacarpal surface.ResultsThe average angle between the hamate surface and the fifth metacarpal surface was 11.66°. The hamate surfaces 1 and 2 have an external rotation angle of 7.30° and 7.51° on average with respect to the fifth metacarpal surface, respectively. There is no statistically significant difference in the angles between the two groups (P > 0.05).ConclusionsThe horizontal angle of the dorsal side of the hamate is different from the back of the fifth metacarpal surface, and the hamate has a certain external rotation angle with respect to the fifth metacarpal surface. No matter how the transarticular plate is placed, the plate always has a certain external rotation angle relative to the fifth metacarpal surface. When the fixation is across the fifth carpometacarpal joint, if the plate does not twist and shape, it will inevitably cause internal rotation of the fifth metacarpal, resulting in internal rotation deformity of the little finger sequence.

Outcome of neglected versus treated tuberculous dactylitis in the same patient. A case report

Introduction: Skeletal tuberculosis is a rare form of extrapulmonary Mycobacterium tuberculosis infection. When tubular bones are affected, it is called tuberculous dactylitis (TD). This rare entity can be seen in the hand or foot and has been mentioned in a handful of case reports. Case Report: A 56-year-old female patient presented to our clinic for left hand middle finger swelling and pain of 1-year duration. Her medical history was relevant for 15 years history of progressive 4th and 5th fingers malformations that were attributed to “sarcoidosis,” and for which she was treated with anti-inflammatory and low dose steroids therapy. At our clinic, physical examination was consistent with a swelling of the base of the middle finger associated with tenderness and decreased range of motion. Radiographs of the hand showed a lytic lesion involving the distal half of the first phalanx, along with blurred limits of the bone surfaces involved. An magnetic resonance imaging was ordered and showed hyper-intense signal of the first phalanx, along with subcutaneous enclosed collections on both sides of the phalanx. Surgical debridement with open biopsy and culture was done. Pathology results showed caseating granulomas, and cultures confirmed the diagnosis of TD. A computed tomography scan of the chest was done postoperatively; where few calcified nodules were noted. She also received a 9-months course of anti-tuberculous drugs and had complete cure by 9 months postoperatively. Conclusion: TD of the hand is a very rare entity of the spectrum of extrapulmonary M. tuberculosis infection. Clinicians should have a high index of suspicion concerning this pathology not to delay the diagnosis, which could lead to permanent deformity. Early diagnosis and treatment can significantly improve outcomes. Keywords: Tuberculous dactylitis, finger deformity, bone cancer, hand infection.

Three-dimensional Printed Customized Adjustable Mallet Finger Splint: A Cheap, Effective, and Comfortable Alternative.

SummaryMallet finger deformity is a common and debilitating injury of the fingertip, accounting for 10% of all tendon and ligament injuries. It involves a disruption of the terminal extensor mechanism of the distal phalanx. Patients can experience significant pain and swelling of the fingertip and have significant morbidity without treatment. Nonoperative treatment using joint immobilization with splints is the mainstay of management. Traditionally, prefabricated and thermoplastic splints have been utilized; however, issues with comfort and skin complications such as maceration can lead to patient noncompliance and eventually, poor outcomes. To address this, we demonstrate our experience with the design, manufacture, and application of individualized 3D printed mallet finger splints. The splints were found to provide advantages akin to traditional thermoplastic splints, with the addition of being low cost, easy to manufacture, and environmentally friendly.

Comprehensive assessment of alterations in hand deformities over 11\xa0years in patients with rheumatoid arthritis using cluster analysis and analysis of covariance

BackgroundAlthough drug therapy for rheumatoid arthritis (RA) has recently improved, treating patients with established disease, whose hands have three major deformities (thumb deformity, finger deformities, and ulnar drift), remains a challenge. The underlying complex pathophysiology makes understanding these deformities difficult, and comprehensive assessment methods require accumulated skill with long learning curves. We aimed to establish a simpler composite method to understand the pathophysiology of and alterations in the hand deformities of patients with RA.MethodsWe established a rheumatoid hand cohort in 2004 and clinically evaluated 134 hands (67 patients). We repeated the evaluations in 2009 (100 hands of 52 patients) and 2015 (63 hands of 37 patients) after case exclusion. Thumb deformities, finger deformities (swan-neck and boutonnière deformity), and ulnar drift were semi-quantitated and entered as parameters into a two-step cross-sectional cluster analysis for the data in 2004. The parameters in each cluster were plotted at each evaluation point. Two-way analysis of covariance was used to examine whether differences existed between evaluation points and clusters of deformity parameters.ResultsFive clusters most appropriately described hand deformity: (i) cluster 1, minimal deformity; (ii) cluster 2, type 1 thumb deformity; (iii) cluster 3, thumb deformity and severe boutonnière deformity; (iv) cluster 4, type 2 or 3 thumb deformity and severe ulnar drift; and (v) cluster 5, thumb deformity and severe swan-neck deformity. Clusters 1 and 2 had higher function than cluster 5, and cluster 3 had moderate function. Clusters 1–4 had similar disease duration but showed different paths of deformity progression from disease onset. Clusters 1 and 2 represented conservative deformity parameters and clusters 3, 4, and 5 represented progressive deformity parameters. Over time, thumb deformity evolved into other types of deformities and swan-neck deformity worsened significantly.ConclusionsOur comprehensive analysis identified five deformity patterns and a progressive course in the rheumatoid hand. Knowledge of the characteristics of progressive deformity parameters may allow rheumatologists to more easily implement practical interventions and determine functional prognosis.

A single K-wire to prevent poor outcomes in closed soft-tissue mallet finger management due to patient non-compliance.

Soft-tissue mallet finger occurs due to loss of terminal extensor tendon secondary to rupture of distal phalanx. Although using noninvasive splints for 6-8weeks is the gold standard for conservative treatment of closed soft-tissue mallet injuries, patient compliance is an important factor impacting on patient outcomes. In this study, we used a single Kirschner Wire (K-W) to fix the distal interphalangeal (DIP) joint in extension in those patients failed to comply with routine splinting. In this prospective study, 190 patients with Doyle type 1 closed soft-tissue mallet finger deformity were included in four groups between 2011 and 2015. These groups were determined according to treatment modalities. Patients in the first group were treated with a finger splint (n = 109). Patients in the second group first received a finger splint and then K-W was applied due to lack of adequate compliance (n = 23). Patients in the third group were treated with K-W only (n = 47), and the fourth group did not accept surgical treatment nor conservative treatment (n = 11). After 20weeks of follow up, we evaluated the results with functional measurements according to Crawford criteria and patient satisfaction. Additionally, the mid-term outcome was assessed with a follow-up at 2years. At 20th week postoperatively, average DIP extension lag was 6 degrees (0-30) for the first group, 6.1 degrees (0-30) for the second group, 3.8 degrees (0-25) for the third group, and 17.3 degrees (7-30) for the fourth group. Total patient satisfaction was 85%, which was considered excellent or good. Swan neck deformity was observed in 11% of patients. Osteomyelitis and KW related complications were not observed. There were no statistically significant differences between short-term and mid-term results. Internal fixation via K-W may be a suitable treatment option compared to splint therapy for management of closed soft-tissue mallet finger in noncompliant patients. Using this treatment approach, the success rate for patients could satisfactorily be improved.

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss

BackgroundPrevious studies have revealed that mutations of Spalt Like Transcription Factor 1 (SALL1) are responsible for Townes-Brocks syndrome (TBS), a rare genetic disorder that is characterized by an imperforate anus, dysplastic ears, thumb malformations and other abnormalities, such as hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease. In addition, the protein tyrosine phosphatase receptor type Q (PTPRQ) gene has been identified in nonsyndromic hearing loss patients with autosomal recessive or autosomal dominant inherited patterns.MethodsA Chinese family with TBS and hearing loss was enrolled in this study. The proband was a two-month-old girl who suffered from congenital anal atresia with rectal perineal fistula, ventricular septal defect, patent ductus arteriosus, pulmonary hypertension (PH), and finger deformities. The proband’s father also had external ear deformity with deafness, toe deformities and PH, although his anus was normal. Further investigation found that the proband’s mother presented nonsyndromic hearing loss, and the proband’s mother’s parents were consanguine married. Whole-exome sequencing and Sanger sequencing were applied to detect the genetic lesions of TBS and nonsyndromic hearing loss.ResultsVia whole-exome sequencing and Sanger sequencing of the proband and her mother, we identified a novel heterozygous mutation (ENST00000251020: c.1428_1429insT, p. K478QfsX38) of SALL1 in the proband and her father who presented TBS phenotypes, and we also detected a new homozygous mutation [ENST00000266688: c.1057_1057delC, p. L353SfsX8)] of PTPRQ in the proband’s mother and uncle, who suffered from nonsyndromic hearing loss. Both mutations were located in the conserved sites of the respective protein and were predicted to be deleterious by informatics analysis.ConclusionsThis study confirmed the diagnosis of TBS at the molecular level and expanded the spectrum of SALL1 mutations and PTPRQ mutations. Our study may contribute to the clinical management and genetic counselling of TBS and hearing loss.

PATIENT-REPORTED OUTCOMES FOR USE OF SILVERSPLINTS IN OSTEOARTHRITIS OF THE HAND.

Pain, stiffness and joint deformity can result in significantly reduced hand function in people with osteoarthritis. Characteristic finger deformities in osteoarthritis are swan neck deformity and boutonnière deformity. Several studies have reported that an orthosis decreases pain and increases function during daily activities for patients with arthritis. The aim of this study was to review patient-reported outcomes of current conservative therapeutic management with silver ring splints (silversplints) for patients with osteoarthritis of the hand. There was a 76% improvement in overall daily functioning and a 74% reduction in pain. Several questions concerned daily activities with different types of hand function and with different types of grip and use of fingers. The results show a major improvement in both the more open grip of the hand and activities requiring fine motor skills. The ability to use force with the hand, even when wearing an orthosis, is an important result. Patients who experienced “no problems or minor problems” had significantly increased functioning in several activities of daily living, but the largest improvement in functioning was seen in “household chores” (243%), “opening jars” (150%) and “lifting groceries” (143%). Overall, silversplints appear to serve as a suitable support for the joints in osteoarthritis of the hand, providing pain relief by preventing the joint from moving through its full range of motion. Use of silversplints to treat patients with osteoarthritis of the hand should be considered as a useful, non-surgical method.LAY ABSTRACTThis study of patient-reported outcome measures regarding the use of silversplints for osteoarthritis of the hand provides insight into the additional care and quality of life provided by the use of an orthopaedic medical aid. The aims of this study are to measure the effectiveness of silversplints in daily life and to validate the efficacy of using orthopaedic medical aids. Between October 2018 and June 2020, a total of 2,231 patients with osteoarthritis were provided with silversplints and were asked about the effectiveness of the splints 3 weeks after they first started wearing them. This large-scale study found that the use of silversplints contributed to overall daily functioning, reduced pain, and increased the possibility of performing daily activities. Silversplints appear to serve as a suitable support for joints, providing pain relief and freedom of movement, but preventing the joint from moving through its full range of motion.

Current Management of Trigger Digit in Rheumatoid Arthritis Patients: A Survey of ASSH Members.

Traditional dogma regarding management of rheumatoid arthritis (RA) patients with trigger digit symptoms holds that A1 pulley release should be avoided. Surgical release was thought to further destabilize the metacarpophalangeal joint. Biologic disease modifying anti-rheumatic drugs (DMARDs) have limited the development of hand deformities. Despite advances in RA treatment, many textbooks continue to discourage release of the A1 pulley in RA patients. The aim of this study was to determine if this belief is consistent with current trends in surgical management of trigger digits in patients with RA. Active Members of the American Society for Surgery of the Hand (ASSH) were surveyed on their training and current practices as related to RA patients with trigger digits. Five hundred three surveys were completed (16% response rate). During training, 55% of ASSH Members were taught to avoid releasing the A1 pulley in RA patients. Seventy-one percent of respondents currently release the A1 pulley in RA patients with no preexisting deformities, no tenosynovial thickening, or if tenosynovectomy and flexor digitorum superficialis slip excision fail to relieve triggering. Forty percent reported that their practice has evolved toward more frequent release of the A1 pulley in RA patients. The majority of ASSH Active Members were taught during training to avoid surgical release of the A1 pulley in RA patients to prevent acceleration of finger deformities. Indications and contraindications for A1 pulley release are evolving along with the improved natural history of RA associated with the use of biologic DMARDs.

Precision X-ray diagnosis of osteoporosis in representatives of risk groups for the appearance and development of varicose disease of the lower limbs

Precision X-ray diagnosis of osteoporosis in representatives of risk groups for the appearance and development of varicose disease of the lower limbs

Ring finger metacarpal fracture iatrogenic rotation using an ulnar gutter splint: A cadaveric study

Study DesignCohort cadaveric study. IntroductionRing finger metacarpal fractures are often treated with ulnar gutter orthoses incorporating the ring and small fingers. Iatrogenic pronation of the distal metacarpal fragment may occur from overzealous orthotic “molding”, resulting in a crossover deformity of the ring finger over the small finger. Purpose of the StudyThe goal of this cadaveric study is to determine whether including the middle finger in an ulnar gutter orthotic could lessen the chances of iatrogenic ring finger metacarpal fracture rotation. MethodsTransverse ring finger metacarpal shaft fractures were created in 24 cadaver hands. The ring and small fingers were then placed into an intrinsic plus position, simulating the application of an ulnar gutter orthotic. Weights of 2.5, 5, and 10 pounds were applied to the ring and small fingers to simulate iatrogenic-induced fracture pronation. The amount of rotational displacement at the fracture was measured, and the protocol was repeated, including the middle finger in the intrinsic plus position. Mann-Whitney-Wilcoxon test was used for statistical analysis. ResultsThere was an increase in distal fragment rotation with increasing weight. Fracture displacement was greater with the 2-finger position than the 3-finger at all weight levels; this reached statistical significance at 10 lbs (2.8 vs 1.8 mm). ConclusionsApplication of an ulnar gutter orthotic including only ring and small fingers can rotate the distal fragment of a ring finger metacarpal shaft fracture such that overlap could occur with the small finger. Including the middle finger in ulnar gutter splints will mitigate against the rotation of the ring finger metacarpal shaft fracture.

EP22 A manifestation of severe sarcoid arthropathy in the distal interphalangeal joint

In 2011 a gentleman in his 50s presented with nasal blockage and bloody discharge. He was diagnosed with sarcoidosis and after 9 years of failed strategies to control his disease, he developed dactylitis. X-ray of the hands showed severe arthropathy in the distal interphalangeal joints. This case demonstrates an uncommon extrapulmonary manifestation of sarcoidosis. Although most of his follow up was with a respiratory clinic, his main symptoms were not due to interstitial lung disease, highlighting the importance of a multidisciplinary approach. To reduce the need for steroids, several DMARDs were tried illustrating that there are limited treatment options.

Distal Arthrogryposis in Newborn: Clinical Case

Background. Arthrogryposis is severe congenital musculoskeletal disease with contractures of two or more joints of the lower and/or upper limbs and usually in combination with muscular hypo- or atrophy.Clinical Case Description. Child F. was hospitalized in the department of newborns and premature babies’ pathology on 6th day of life in critical condition. Spontaneous motor activity was severely decreased. He responds to the examination with little increase in motor activity and weak painful scream. Muscle tone is dystonic: it is diffusely reduced in the proximal parts of the upper and lower limbs, in the distal parts of the upper limbs it is significantly increased, there are flexion contractures of the fingers on both hands (mostly on the left one). Passive fingers contractures reversal is difficult. There were no feet deformities or craniofacial anomalies. Hereditary history is burdened: child’s father (1984 year of birth), great-grandfather and cousin uncle (on the paternal line) have finger deformities on both hands. Father and relatives have not been diagnosed before. The clinical diagnosis was established after consultation of geneticist and orthopedist: «Distal arthrogryposis, type 2A, autosomal dominant type of inheritance with incomplete penetrance». The molecular genetic testing was not performed due to the refusal of the child's parents. Therapeutic gymnastics, stage plaster correction of finger contractures were performed in the department during the child hospitalization (21 days). Positive dynamics was noted: finger extension amplitude has increased.Conclusion. Early conservative treatment of infants with arthrogryposis allows to correct musculoskeletal deformities. Early initiation of treatment is expected to increase the amplitude of both passive and active movements in the hand joints, whereas, it will improve the function of hand grasping and self-care capacities of patients.

Repair of severe flexion contracture deformity of adjacent fingers with trifoliated flap from toe web in six patients

From May 2014 to January 2018, 6 patients with severe flexion contracture deformity caused by palmar cicatricial hyperplasia of adjacent 2 or 3 fingers were admitted to the Yidu Central Hospital of Weifang. There were 4 males (8 fingers) and 2 females (5 fingers), aged 13-51 years.The degrees of flexion of proximal interphalangeal joint of affected fingers and metacarpophalangeal joint were respectively 60-90°and 60-80°, and the total degree of passive extension of metacarpophalangeal joint, proximal interphalangeal joint, and distal interphalangeal joint was from -180 to -120°. After scar resection, tendon release, and extension of affected fingers, bone and/or tendon were exposed, and the wound area was 4.0 cm×2.0 cm-8.5 cm×4.0 cm.The wound was repaired with trifoliated flap composed of fibular flap of great toe, abdominal flap of the second toe, and plantar metatarsal flap, with flap area of 4.5 cm×2.5 cm-9.0 cm×4.5 cm.The plantar metatarsal wound of the donor site was sutured directly, and the remaining wound was repaired with full-thickness skin graft from the outside of the thigh. All the wounds of patients were healed. All flaps survived and had good blood circulation without vascular crisis after operation.During follow-up of 6 months to 2 years, the flaps were with good appearance, no swelling, similar in color to the surrounding skin, soft in texture, good in sensations of touch and pain, and the distance of discrimination of 6-8 mm. The active and passive flexion and extension of the affected fingers were good, and there was no dysfunction in the donor site of foot, only with slight scar. The article showed that trifoliated flap from toe web is one of the best methods to repair the severe contracture flexion deformity of fingers caused by severe cicatricial hyperplasia of palmar side, especially the soft-tissue defect of the skin after the cicatricial hyperplasia of adjacent 2 or 3 fingers is removed.

Fixed Flexion Deformity of the Middle and Ring Fingers in Adult Caused by Intramuscular Hemangioma of the Forearm: A Case Report

Intramuscular hemangioma (IMH) of the upper extremity is extremely rare and mostly found in children. The authors presented a 39-year-old female with an unusual case of fixed flexion deformity of the middle finger and ring finger with deep forearm pain for three years. The patient was diagnosed with IMH of the flexor digitorum superficialis muscle. Excision of the IMH was performed and intra-operatively passive extension of PIP joints was achieved. After 12 months follow-up, the patient was satisfied with the outcomes with no recurrence of flexion contracture. IMH of the upper extremity is an uncommon disease, especially in adults. It should be considered in patient who presented with deep forearm pain and finger flexion deformity. Early investigation should be performed and surgical removal remains the treatment of choice. Furthermore, tendon transfer should be reserved in case of functional deficits. Keywords: Intramuscular hemangioma, Flexion contracture, Forearm, Soft tissue tumor

Treatment of tendinous mallet finger deformity with a part of the flexor digitorum profundus tendon.

To introduce and evaluate an updated surgical technique for the treatment of tendinous mallet finger deformity. From April 2017 to September 2018, 13 cases of tendinous mallet finger deformity were treated. All patients had zone I extensor tendon rupture, with no residual tendon at the insertion for suture, and no avulsion fracture in the distal phalanx. Extensor tendon insertion reconstruction was realized by suturing the transferred portion of the flexor digitorum profundus tendon with the proximal end of the extensor tendon via a constructed bone tunnel. The treatment efficacy of the enrolled patients was evaluated by using Dargan evaluation criteria post-operatively. All patients were followed up with an average duration of 10.6 months. At the last follow-up, 12 patients showed excellent function recovery and one case had unsatisfactory outcome according to the Dargan evaluation criteria. Satisfactory therapeutic outcome for the treatment of tendinous mallet finger deformity can be achieved by reconstructing extensor tendon insertion using a part of the flexor digitorum profundus tendon, implying that the proposed treatment method is worthy of clinical application.

Correlation between length of little finger and occlusal vertical dimension in Indonesian subraces

Introduction: The correct determination of proper occlusal vertical dimension (OVD) is an important step that must be concerned by the dentist in dental treatment procedures. There are varieties of the method to establish OVD such as anthropometric measurements of OVD and length of little finger (LLF). This study was aimed to analyse the correlation between the occlusal vertical dimension with the length of little finger in Indonesian subraces such as Deutro-Malay, Proto-Malay, and Indonesian Chinese subraces. Methods: A cross-sectional study was conducted on 336 dentate subjects comprising of 168 males and 168 females with an age range between 20-35 years old with no little finger deformity. The sampling technique used was consecutive sampling. Anthropometric measurement of OVD and LLF were recorded clinically using a digital vernier calliper. Correlation between OVD and LLF was analysed using the Pearson correlation. Results: Result of the statistical test showed that the OVD was significantly (p=0.000) and positively correlated with LLF, and showed a strong correlation (r=0.779) in Indonesian subraces. Conclusion: There is a correlation between occlusal vertical dimension measurement and the length of little finger in Indonesian subraces.

Trends in Proximal Interphalangeal and Metacarpophalangeal Joint Arthroplasty Utilization Using Statewide Databases.

Background: Arthritis can have profound debilitating effects on the hand secondary to finger deformities and pain. Arthroplasty of the metacarpophalangeal (MCP) and proximal interphalangeal (PIP) can be performed to reduce pain while maintaining joint range of motion. Methods: We used outpatient surgery registries from the states of California and Florida to assess the trends of arthroplasty across several recent years and to determine if the outcomes differ based on disease etiology. Results: We found that there has been a steady decline in number of MCP arthroplasty procedures performed annually between 2005 and 2011 while PIP arthroplasty procedures peaked in 2007 and have since also declined. There was an overall complication rate of 2.4% and no difference in cardiac, respiratory, deep venous thrombosis and infection between patients with osteoarthritis and other arthritic etiologies. However, the risk of device failure in patients with rheumatoid arthritis is found to be significantly higher than for patients with osteoarthritis (p < 0.01). Conclusions: PIP and MCP arthroplasty are safe procedures with an overall low complication rate. The increased risk of device related complications observed in patients with rheumatoid arthritis can be used to appropriately counsel this patient population regarding post-operative expectations and prognosis.

Repair of mallet finger with extensor digitorum tendon defect in zone I by autologous flexor digitorum profundus tendon transposition

Objective To investigate the clinical efficacy of autologous flexor digitorum profundus tendon transposition for repair of mallet finger with extensor digitorum tendon defect in zone Ⅰ. Methods From September 2016 to September 2018, 30 patients with extensor digitorum tendon defect in zone Ⅰ were treated with autologous flexor digitorum profundus tendon transposition. The postoperative follow-up was performed. The function of the affected finger was evaluated by Dargan and Crawford functional assessment criteria. Results All the patients were follow-up for 6 to 12 months. The average operation time was (44.2±4.7) minutes. There was no incision infection after operation, and the wounds healed well. No complications such as joint stiffness, skin necrosis or finger deformity occurred. The function of affected fingers was evaluated according to Dargan functional assessment criteria as excellent in 12 cases, good in 14 cases, fair in 4 cases with the excellent and good rate being 86.7%; according to Crawford functional assessment criteria as excellent in 11 cases, good in 15 cases, fair in 4 cases with the excellent and good rate being 86.7%. Conclusion The application of autologous flexor digitorum profundus tendon transposition for repair of mallet finger with extensor digitorum tendon defect in zone Ⅰ can achieve good clinical efficacy. The operation is simple and easy to perform, and it is worthy of clinical promotion. Key words: Tendon injuries; Treatment outcome; Flexor digitorum profundus tendon; Mallet finger

P1801Multiple members with an isolated atrial septal defect phenomenon presented in a family with Holt-Oram syndrome

Abstract Background Holt-Oram syndrome (HOS), characterized by upper limb malformations, congenital heart diseases (CHD) and/or cardiac conduction abnormalities, is an autosomal dominant disease. Almost all the HOS patients suffer from cardiac and limb abnormalities at the same time. Among them, atrial septal defect (ASD) is the most common cardiac anomaly. The unusual phenotype in a pedigree including multiple members with isolated ASD and a few with isolated limb deformity attracted attention. Aim To detect mutant genes of ASD in this pedigree and make a definitive diagnosis. To investigate the mutant type of the gene and illustrate the possible mechanism of heterogeneous phenotype. Methods Echocardiography, electrocardiography and physical examination were given to a four-generation Chinese HOS family. Of all 11 patients in this pedigree, eight patients had isolated ASD and one patient had isolated finger deformity. In addition, two patients suffered from both diseases (Figure. 1). Whole Exome Sequencing was performed on the proband and his relatives including three with ASD only, one with finger deformity only and one normal person. Sanger sequencing was performed on biological relatives in this pedigree to valid rare variants. Single nucleotide polymorphisms and insertions/deletions were identified using the GATK program. Pathogenicity was predicted in software like SIFT, Ployphen-2, MutationTaster and CADD_phred. Results An exon site mutation (c.100dupG:p.Ala34fs) of TBX5 was detected in all the patients of this pedigree. This mutation site is located in front of T-box and most probably leads to haploinsufficiency of TBX5 protein. In addition, only 42 variants (1 splicing single nucleotide variants (SNV), 15 insertions/deletions, 24 nonsynonymous SNVs, 1 stopgain SNVs and 1 unknown) were found in 29 genes, which are related to cardiac disease. Figure 1 Conclusions Our study revealed a mutation (c.100dupG:p.Ala34fs) of TBX5 and further demonstrated the possibility of HOS-related TBX5 mutation in patients with congenital ASD only. This study clarified the diagnosis of this pedigree, provided genetic counseling and promoted the prevention and treatment of HOS. Further research is needed on mechanisms that may lead to phenotypic variation between and within families, such as random monoallelic expression. Acknowledgement/Funding None