Reducción cerrada y fijación intramedular de fracturas del cuello del quinto metacarpiano: técnica retrógrada vs. anterógrada. Estudio prospectivo / Closed reduction and intramedullary fixation of fifth metacarpal neck fractures: Retrograde vs. anterograde technique. Prospective study

Introducción: La fractura de quinto metacarpiano es una dolencia muy frecuente que puede ocasionar deformidad y afectación funcional para la prensión adecuada de la mano. La reinserción a las actividades cotidianas o laborales se relaciona con el tratamiento recibido y la rehabilitación. En fracturas de cuello de quinto metacarpiano la fijación interna con aguja Kirschner es un método de tratamiento convencional con variantes que afectan su desenlace. Objetivo: Comparar los resultados funcionales y clínicos del tratamiento de las fracturas de quinto metacarpiano con el uso de agujas Kirschner vía retrógrada versus anterógrada. Material y métodos: Estudio comparativo, longitudinal, prospectivo, realizado en un hospital de tercer nivel de Traumatología, en pacientes con fractura de cuello de quinto metacarpiano, con seguimiento clínico, radiográfico y con escala Quick DASH a la tercera, sexta y octava semana postoperatoria. Resultados: Se incluyeron 60 pacientes (58 hombres, 2 mujeres), con un promedio de edad de 29,63±10,15 años, con fractura de quinto metacarpiano, tratados mediante reducción cerrada y estabilización con aguja Kirschner. La vía anterógrada mostró un rango de flexión metacarpofalángica a las 8 semanas de 89,11 grados (p<0,001; IC95% [−26.81; −11,42]), un valor de la escala DASH de 18,17 (p<0,001; IC95% [23,45; 39,12]) y un promedio de 27,35 días de incapacidad laboral (p=0,002; IC95% [16,22; 62,14]), comparada con la vía retrógrada. Conclusión: La estabilización con aguja Kirschner vía anterógrada mostró superioridad en resultados funcionales y en amplitud de movimiento metacarpofalángica comparados con los operados por vía retrógrada a la octava semana del postoperatorio.(AU)

Introduction: The fifth metacarpal fracture is a frequent pathology that can cause deformity and functional impairment for the adequate grip of the hand. Reintegration into daily or working activities is related to the treatment received and rehabilitation. In fractures of the neck of the fifth metacarpal, internal fixation with a Kirschner's wire is a conventional treatment method with variants that affect its outcome. Aim of the study: To compare the functional and clinical results of the treatment of fifth metacarpal fracture with the use of retrograde versus antegrade Kirschner wires. Material and methods: Comparative, longitudinal, prospective study at a third-level trauma center in patients with a fifth metacarpal neck fracture, with clinical, radiographic and Quick DASH scale follow-up at the 3rd, 6th, and 8th postoperative week. Results: Sixty patients were included (58 men, 2 women), age of 29.63±10.15 years, with a fifth metacarpal fracture, treated by closed reduction and stabilization with a Kirschner wire. The antegrade approach showed a metacarpophalangeal flexion range at 8 weeks of 89.11° (p<0.001; 95% CI [−26.81; −11.42]), a DASH scale value of 18.17 (p<0.001; 95% CI [23.45; 39.12]), and an average of 27.35 days to return to work (p=0.002; 95% CI [16.22; 62.14]), compared with the retrograde approach. Conclusion: Stabilization with antegrade Kirschner wire showed superior functional results, and metacarpophalangeal range of motion, compared to those operated via retrograde approach.(AU)

[Translated article] Closed reduction and intramedullary fixation of fifth metacarpal neck fractures: Retrograde vs. anterograde technique. Prospective study / Reducción cerrada y fijación intramedular de fracturas del cuello del quinto metacarpiano: técnica retrógrada vs. anterógrada. Estudio prospectivo

Introducción: La fractura de quinto metacarpiano es una dolencia muy frecuente que puede ocasionar deformidad y afectación funcional para la prensión adecuada de la mano. La reinserción a las actividades cotidianas o laborales se relaciona con el tratamiento recibido y la rehabilitación. En fracturas de cuello de quinto metacarpiano la fijación interna con aguja Kirschner es un método de tratamiento convencional con variantes que afectan su desenlace. Objetivo: Comparar los resultados funcionales y clínicos del tratamiento de las fracturas de quinto metacarpiano con el uso de agujas Kirschner vía retrógrada versus anterógrada. Material y métodos: Estudio comparativo, longitudinal, prospectivo, realizado en un hospital de tercer nivel de Traumatología, en pacientes con fractura de cuello de quinto metacarpiano, con seguimiento clínico, radiográfico y con escala Quick DASH a la tercera, sexta y octava semana postoperatoria. Resultados: Se incluyeron 60 pacientes (58 hombres, 2 mujeres), con un promedio de edad de 29,63±10,15 años, con fractura de quinto metacarpiano, tratados mediante reducción cerrada y estabilización con aguja Kirschner. La vía anterógrada mostró un rango de flexión metacarpofalángica a las 8 semanas de 89,11 grados (p<0,001; IC95% [−26.81; −11,42]), un valor de la escala DASH de 18,17 (p<0,001; IC95% [23,45; 39,12]) y un promedio de 27,35 días de incapacidad laboral (p=0,002; IC95% [16,22; 62,14]), comparada con la vía retrógrada. Conclusión: La estabilización con aguja Kirschner vía anterógrada mostró superioridad en resultados funcionales y en amplitud de movimiento metacarpofalángica comparados con los operados por vía retrógrada a la octava semana del postoperatorio.(AU)

Introduction: The fifth metacarpal fracture is a frequent pathology that can cause deformity and functional impairment for the adequate grip of the hand. Reintegration into daily or working activities is related to the treatment received and rehabilitation. In fractures of the neck of the fifth metacarpal, internal fixation with a Kirschner's wire is a conventional treatment method with variants that affect its outcome. Aim of the study: To compare the functional and clinical results of the treatment of fifth metacarpal fracture with the use of retrograde versus antegrade Kirschner wires. Material and methods: Comparative, longitudinal, prospective study at a third-level trauma center in patients with a fifth metacarpal neck fracture, with clinical, radiographic and Quick DASH scale follow-up at the 3rd, 6th, and 8th postoperative week. Results: Sixty patients were included (58 men, 2 women), age of 29.63±10.15 years, with a fifth metacarpal fracture, treated by closed reduction and stabilization with a Kirschner wire. The antegrade approach showed a metacarpophalangeal flexion range at 8 weeks of 89.11° (p<0.001; 95% CI [−26.81; −11.42]), a DASH scale value of 18.17 (p<0.001; 95% CI [23.45; 39.12]), and an average of 27.35 days to return to work (p=0.002; 95% CI [16.22; 62.14]), compared with the retrograde approach. Conclusion: Stabilization with antegrade Kirschner wire showed superior functional results, and metacarpophalangeal range of motion, compared to those operated via retrograde approach.(AU)

Novel Use of an Internal Distractor for Metacarpal Lengthening.

BACKGROUND: In patients who have had proximal digit amputation, metacarpal distraction osteogenesis is an option to improve digital length and function. One drawback is that traditional external distraction devices are large and cumbersome; the option of a low-profile internal device is therefore appealing. Internal distractors are commonly used in craniofacial reconstruction, but use in the hand has not been reported. We describe a case series of the novel use of an internal distractor in metacarpal lengthening. METHODS: In this single-center case series, patients who underwent metacarpal distraction by the senior author using a uniplanar internal distractor were reviewed, and indications, outcomes, and complications were analyzed. RESULTS: There were 5 cases in 4 patients (age range: 7-33 years). Indications were traumatic amputation in 4 cases and congenital hypoplasia in 1. All were successfully distracted, with a mean final length gain of 1.3 cm (range: 1.0-1.7 mm). Mean time from device placement to consolidation was 3.5 months. Complications included activation arm site infection in 2 cases, both occurring after the distraction period, necessitating device removal before full consolidation. In these cases, the device was removed after the distraction period and replaced with a Kirschner wire for stabilization through the consolidation period. CONCLUSIONS: Metacarpal distraction was successfully achieved with an internal distraction device. Although infection was common, it occurred after the distraction period and did not preclude length gain. We feel that this low-profile device offers advantages over cumbersome external devices typically used for metacarpal lengthening.

Disproportion and dysmorphism in an adult Belgian population with Turner syndrome: risk factors for chronic diseases?

BACKGROUND: Turner syndrome (TS) is characterized by dysmorphism and body disproportion. TS women are also susceptible to a range of chronic disorders including arterial hypertension (AHT), osteoporosis, sensorineural hearing loss (SNHL), type 2 diabetes mellitus (DM2) and thyroid disease. The association between dysmorphism/body disproportion and chronic disease has never been studied in TS women. The effect of growth hormone treatment on body disproportion is also unclear. Objectives: to analyze dysmorphic features and body disproportion in TS women in relation to the presence of chronic disease and to document the effect of growth hormone therapy on body disproportion. METHOD: 76 adult TS women with a regular follow up at the TS clinic UZ Ghent were invited to participate. Detailed body measurements were performed in 44 volunteering TS women. Scoring systems for overall dysmorphism, craniofacial dysmorphism, thoracic and limb abnormalities and skeletal disproportion were developed. RESULTS: TS women with a higher dysmorphism score were more at risk for AHT (p = 0.04) as well as those with a higher sitting height/standing height ratio (p < 0.05). Prevalence of AHT, osteoporosis and DM 2 was lower in TS women treated with GH during childhood (p < 0.05). CONCLUSIONS: Adult TS women with relatively short legs or with more physical dysmorphic stigmata were more at risk for AHT. GH therapy does not seem to increase the risk of chronic disease on the long term.

Metacarpal Lengthening in Adults With Brachymetacarpia.

BACKGROUND: Metacarpal lengthening by distraction osteogenesis has been well documented in pediatric patients but limited in older patients. Fewer studies have assessed the success of the procedure through outcome measure scores. The purpose of this study is to assess the outcomes of distraction osteogenesis in skeletally mature adults with brachymetacarpia and patients' perspectives on their satisfaction through outcome measure scores. METHODS: Retrospective chart review of a consecutive series of metacarpal lengthenings for the treatment of brachymetacarpia was performed. Key parameters collected include starting metacarpal length, amount lengthened, range of motion of metacarpophalangeal joint, type of fixator used, distraction time, and total time in fixator. Relevant comorbidities and complications encountered were recorded as well. The Body Image Quality of Life Inventory (BIQLI) and Limb Deformity Modified Scoliosis Research Society (LD-SRS) score were given to evaluate patients' perspectives on their satisfaction of surgery. RESULTS: Seven metacarpal lengthenings were performed in 4 adult females (average age: 22.8 years) between 2005 and 2016. The average amount lengthened was 1.5 cm (range, 1.2-2.1 cm), corresponding to a mean percent lengthening of 44.4% (range, 33.3%-57.1%). The mean distraction rate was 0.432 mm/day (range, 0.286-0.724 mm/day). The mean distraction time was 38 days (range, 28-55 days). External fixation index was 71.8 days/cm (range, 53.5-99.2 days/cm). No functional loss was observed. CONCLUSIONS: Progressive distraction osteogenesis can obtain functionally successful results and improvement in aesthetics and body image without severe complications in skeletally mature adults with brachymetacarpia.

Schizophrenia and epilepsy as a result of maternally inherited CNTN6 copy number variant.

BACKGROUND: Copy number variants have made important contributions to understanding neuropsychiatric disorders, including schizophrenia. Deletions in genes encoding neuronal cell adhesion molecules have identified widely varied neurodevelopmental phenotypes. CASE SUMMARY: A 27-year old woman presented with schizophrenia, borderline intellectual functioning and shortened metacarpal bones. Subsequent electroencephalogram confirmed genetic generalised epilepsy and microarray analysis found a 0.2 megabase deletion of chromosome 3p26.3. CONCLUSIONS: We report the first case of schizophrenia in a proband with a CNTN6 deletion. Schizophrenia has been reported in relatives of probands with this deletion but not in probands themselves. This finding further contributes to the evolving literature regarding schizophrenia pathogenesis.

Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.

Omodysplasia-2 (OMOD2; OMIM%16475) is a rare autosomal dominant (AD) skeletal dysplasia characterized by shortened humeri, short first metacarpal, craniofacial dysmorphism (frontal bossing, depressed nasal bridge, bifid nasal tip, and long philtrum), and variable degrees of genitourinary anomalies. This clinical phenotype overlaps with that of AD type Robinow syndrome. Recently, a mutation in FZD2 encoding a Frizzled Class Receptor 2 has been identified in a family with AD omodysplasia (an affected girl and her affected mother). Here, we present the second report on a heterozygous novel nonsense FZD2 mutation in OMOD2 or Robinow syndrome-like phenotype. The proband was a 16-year-old boy, who has been followed from infancy to adolescence. He presented with rhizomelic short stature with elbow restriction, mild facial dysmorphism (depressed broad bridge, short nose, anteverted nostrils, long philtrum, and low-set ears), and genital hypoplasia. Radiological examination in infancy showed short, broad humeri with relatively narrow distal ends, mildly broad femora, thick proximal ulnae with hypoplastic, dislocated proximal radii, and short first metacarpals. The abnormal skeletal pattern was persistent in adolescence; however, the humeri and femora became less undermodeled, while the humeri and radii became mildly bowed. Molecular analysis identified a de novo, heterozygous, nonsense mutation (c.1640C>A, p.S547*) in FZD2. The affected codon was next to the previously reported mutation (p.Trp548*). The results indicate that OMOD2 or Robinow syndome-like phenotype can be caused by a heterozygous nonsense FZD2 mutation impairing Wnt signaling. Further molecular studies will permit better clarification of the phenotypic spectrum in patients with OMOD2.

A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious puberty.

BACKGROUND: Bannayan Riley Ruvalcaba syndrome (BRRS) is exceedingly rare, with only about 50 reported cases to date. CASE PRESENTATION: We report a patient with hypoglycemia, precocious puberty and diffuse testicular microlithiasis accompanying BRRS, and think that this case is important in the light of a newly identified mutation in the PTEN gene. CONCLUSIONS: Close attention must be paid in terms of PTEN mutations in cases of macrocephaly and accompanying neurological and dermatological findings.

Metacarpal Bone Plane Examination by Ultrasonography for the Diagnosis of Fetal Forearm and Hand Deformity.

We explored the value of the metacarpal bone plane in screening for serious fetal forearm and hand deformities, excluding simple polydactyly and dactylion deformity, by ultrasonographic examination. Observed the second to fifth metacarpal bone plane of fetuses in 20,139 pregnant women at a gestational age of 16 to 30 weeks in The International Peace Maternity &Child Health Hospital of China Welfare Institute (IPMCH). There was a total 138 cases of fetal forearm and/or hand deformity among the 20,139 pregnant women. Of these, 134 cases were diagnosed, 4 cases were not diagnosed, and 1 case was misdiagnosed. Among the 134 diagnosed cases, there were 19 cases of hand absence, 5 cases of cleft hand, 13 cases of ectrodactyly, 26 cases of radius absence, 9 cases of forearm and hand dysplasia, 55 cases of thanatophoric dysplasia, 6 cases of wrist joint dysplasia, and 1 case of forearm amputation deformity. The deformity rate was 0.76%, the diagnostic coincidence rate was 99.97%, the sensitivity was 97.10%, the specificity was 99.99%, and the false negative rate was 2.9%. As such, careful observation of the metacarpal bone plane can be used increase the diagnosis rate of fetal forearm and hand deformity.

Brachydactyly type E in an Italian family with 6p25 trisomy.

Brachydactyly type E is a congenital limb malformation characterized by small hands and feet as a result of shortened metacarpals and metatarsals. Genetic causes of this anomaly are heterogeneous and only partially characterized. In this report we describe an Italian family in which four subjects share brachydactyly type E and a 3 Mb microduplication in region 6p25. The duplication involves the gene FOXC1, expressed during the osteoblast differentiation, which appears a potential candidate gene for brachydactyly.

That's my STYLEoideum - Symptomatic os styloideum in an adolescent male.

We present a 15-year-old male patient with persistent localized pain on the dorsal side of the left wrist between the base of the 2nd and 3rd metacarpal bones and over the third carpometacarpal joint. It was diagnosed as an accessory metacarpal bone -Os styloideum. This entity may be detected on plain radiographs and in ultrasound examination and is often asymptomatic. Symptomatic os styloideum occurs more frequently in the dominant hand and may be treated conservatively with corticosteroid infiltration. A palpable prominence on the dorsal side of the wrist and focal pain evoked anxiety of the adolescent patient who searched medical consultation. In the clinical examination, a bony protrusion was confirmed and different possible diagnoses have been considered. After treatment with a corticosteroid infiltration of the third carpometacarpal joint under fluoroscopy the pain resolved completely. We would like to draw attention of clinicians and radiologists to this rare anatomical variant that normally is asymptomatic, and therefore not immediately recognized. Acquaintance with this entity and its early detection may lead to conservative treatment instead of surgical excision. A comprehensive literature search, review and discussion about os styloideum are provided in the article.

Carpal Coalitions and Metacarpal Synostoses: A Review.

Background: Carpal coalition and metacarpal synostosis are uncommon congenital anomalies of the carpus and hand. Methods: A comprehensive review of the literature was performed to help guide surgical and non-surgical treatment of carpal coalition and metacarpal synostosis. Results: The embryology, epidemiology, medical and surgical management, and associated outcomes are detailed. Conclusions: Most patients with these disorders will likely benefit from conservative measures. Surgery should be considered in patients with pain and limitations in wrist and hand function.

Surgical correction of bilateral metacarpophalangeal valgus with curved osteotomies and type II external skeletal fixation in a seven-month-old alpaca.

OBJECTIVE: To report the successful surgical correction of severe bilateral metacarpophalangeal valgus angular limb deformities in a seven-month-old intact male alpaca cria using curved osteotomies stabilized with type II external skeletal fixation. METHODS: Using a 21 mm crescentic shaped oscillating saw blade, bilateral osteotomies were performed in the distal metaphyses of the fused third and fourth metacarpal bones to correct valgus angular limb deformity of the metacarpophalangeal joints. Axial alignment of each limb was achieved by medially rotating the distal metacarpus in the frontal plane along the curved osteotomies. The osteotomies were stabilized using type II external skeletal fixators. RESULTS: The alpaca was immediately weight-bearing following the surgical procedure and no to minimal lameness was observed during healing of the osteotomies. Evaluation at five and 10 months following the surgery demonstrated acceptable axial alignment in the left forelimb while moderate to severe varus deformity (overcorrection) was observed in the right. CLINICAL SIGNIFICANCE: Curved osteotomy of the distal metacarpus stabilized with type II external skeletal fixation can provide a favourable outcome in older alpaca crias affected with metacarpophalangeal angular limb deformities. Placement of the distal transfixation pins relative to the metacarpal physes should be carefully evaluated as overcorrection is possible, especially if growthpotential remains in only one physis of the fused third and fourth metacarpal bones.

A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.

Synpolydactyly (SPD) is a rare congenital limb disorder characterized by syndactyly between the third and fourth fingers and an additional digit in the syndactylous web. In most cases SPD is caused by heterozygous mutations in HOXD13 resulting in the expansion of a N-terminal polyalanine tract. If homozygous, the mutation results in severe shortening of all metacarpals and phalanges with a morphological transformation of metacarpals to carpals. Here, we describe a novel homozygous missense mutation in a family with unaffected consanguineous parents and severe brachydactyly and metacarpal-to-carpal transformation in the affected child. We performed whole exome sequencing on the index patient, followed by Sanger sequencing of parents and patient to investigate cosegregation. The DNA-binding ability of the mutant protein was tested with electrophoretic mobility shift assays. We demonstrate that the c.938C>G (p.313T>R) mutation in the DNA-binding domain of HOXD13 prevents binding to DNA in vitro. Our results show to our knowledge for the first time that a missense mutation in HOXD13 underlies severe brachydactyly with metacarpal-to-carpal transformation. The mutation is non-penetrant in heterozygous carriers. In conjunction with the literature we propose the possibility that the metacarpal-to-carpal transformation results from a homozygous loss of functional HOXD13 protein in humans in combination with an accumulation of non-functional HOXD13 that might be able to interact with other transcription factors in the developing limb.

Coalition of trapezoid, capitate, and metacarpal: a case report.

Carpal coalition is a rare wrist anomaly. A coalition can be an isolated condition, but it can be observed as a component of a congenital syndrome as well. Carpal coalition is usually asymptomatic and detected incidentally. It is most frequently encountered as lunate-triquetral coalition, followed by capito-hamate coalition. Other coalition types are very rare. In this case report, we present a case in which the patient applied with complaints of pain, and in whom a coalition of capitate-trapezoid- second and third metacarpal was detected.

A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia.

Autosomal dominant omodysplasia is a rare skeletal dysplasia characterized by short humeri, radial head dislocation, short first metacarpals, facial dysmorphism and genitourinary anomalies. We performed next-generation whole-exome sequencing and comparative analysis of a proband with omodysplasia, her unaffected parents and her affected daughter. We identified a de novo mutation in FRIZZLED2 (FZD2) in the proband and her daughter that was not found in unaffected family members. The FZD2 mutation (c.1644G>A) changes a tryptophan residue at amino acid 548 to a premature stop (p.Trp548*). This altered protein is still produced in vitro, but we show reduced ability of this mutant form of FZD2 to interact with its downstream target DISHEVELLED. Furthermore, expressing the mutant form of FZD2 in vitro is not able to facilitate the cellular response to canonical Wnt signaling like wild-type FZD2. We therefore conclude that the FRIZZLED2 mutation is a de novo, novel cause for autosomal dominant omodysplasia.

Aplanamiento de las cabezas de los metacarpianos / No disponible

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