Discondrosteosis de Léri-Weill. Presentación de una familia afectada / Léri-Weill dyschondrosteosis. Presentation of an affected family

RESUMEN Fundamentación: La discondrosteosis de Léri-Weill, displasia ósea de origen genético que afecta la región mesomélica con acortamiento de las extremidades, provoca talla baja con extremidades cortas con deformidad de Madelung; esta enfermedad muestra un patrón de herencia autosómico dominante con alta penetrancia. Objetivo: Describir las deformidades de esta discondrosteosis de baja frecuencia con expresividad variable, que se presentó de la misma forma en todos los afectados de esta familia. Presentación de caso: Se reportó una familia con enfermos en tres generaciones con deformidad de Madelung de ambas muñecas y baja estatura de origen mesomélico, que se mantiene seguimiento en consultas de Genética Clínica y Ortopedia. Conclusiones: El examen físico y radiológico imprescindibles para llegar al diagnóstico clínico. El método clínico y la valoración multidisciplinaria resultaron de gran valor para definir esta enfermedad y poder brindar un adecuado asesoramiento genético a esta familia.

ABSTRACT Background: Léri-Weill dyschondrosteosis, bone dysplasia of genetic origin that affects the mesomelic region with shortening of the extremities, causes short stature with short extremities with Madelung deformity.This disease shows an autosomal dominant inheritance pattern with high penetrance. Objective: To describe the deformities of this low frequency dyschondrosteosis with variable expressivity which was presented in the same way in all those affected in this family. Case presentation: A family with sick members was reported in three generations with Madelung deformity of both wrists and short stature of mesomelic origin which is followed up in consultations of Clinical Genetics and Orthopedics. Conclusion: The essential physical and radiological examination to reach the clinical diagnosis. The clinical method and the multidisciplinary assessment were of great value to define this disease and to be able to provide adequate genetic counseling to this family.

Absence of flexor carpi radialis identified during volar approach for fixation of distal radius fracture: a case report.

BACKGROUND: Volar locking plate fixation of distal radius fractures is commonly performed because of its good clinical outcomes. The flexor carpi radialis (FCR) approach is one of the most popular approaches to dissecting the volar side of the distal radius because of its simplicity and safety. We describe an extremely rare case of an absent FCR identified during a volar approach for fixation of a distal radius fracture. CASE PRESENTATION: A 59-year-old woman with distal radius fracture underwent surgery using the usual FCR approach and volar locking plate. We could not identify the absence of the FCR tendon preoperatively because of severe swelling of the distal forearm. At first, we wrongly identified the palmaris longus tendon as the FCR because it was the tendinous structure at the most radial location of the volar distal forearm. When we found the median nerve just radial to the palmaris longus tendon, we were then able to identify the anatomical abnormality in this case. To avoid iatrogenic neurovascular injuries, we changed the approach to the classic Henry's approach. CONCLUSIONS: Although the FCR approach is commonly used for fixation of distal radius fractures because of its simplicity and safety, this is the first report of complete absence of the FCR during the commonly performed volar approach for fixation of a distal radius fracture, to our knowledge. Because the FCR is designated as a favorable landmark because of its superficially palpable location, strong and thick structure, and rare anatomical variations, there is the possibility of iatrogenic complications in cases of the absence of the FCR. We suggest that surgeons should have a detailed knowledge of the range of possible anomalies to complete the fixation of a distal radius fracture safely.

Anatomic Anomalies Encountered in 467 Open Carpal Tunnel Surgeries.

Carpal tunnel syndrome is the most common compression neuropathy and carpal tunnel surgery is the most frequently performed hand surgery. Anatomic anomalies may predispose the median nerve to compression. The aim of the current study was to search for anatomic anomalies in open carpal tunnel surgeries through a cross-sectional study. During a cross-sectional study in a one-year period, 436 consecutive patients (307 females and 129 males) with the average age of 50.3 ± 2.4 years underwent 467 classic open carpal tunnel surgeries. Thirty-one patients had bilateral surgeries. A thorough inspection of the incisions was conducted to search for vascular, neural, tendon and muscular anomalies. Forty-two (8.9%) hands (14 males and 28 females) had anomalies. The average age of the patients with discovered anomalies was 48.6 ± 7.6 years. Ten anomalies were seen on the left hands and 32 anomalies were seen on the right hands. Among the 42 anomalies, there were 16 persistent median arteries, 14 anomalies of the median nerve, 7 intratunnel intrusion of the flexor and lumbrical muscle bellies and 5 anomalies of the origin of the thenar muscles. There was no correlation between the discovered anomalies and the age, gender or hand sides. Anatomical anomalies are not uncommon in carpal tunnel surgeries. However, the frequencies of the reported anomalies vary among different studies. Familiarity with these anomalies increases the safety of the operation.

Variant course of extensor pollicis longus tendon in the second wrist extensor compartment.

Among the muscles involved in thumb movement, the extensor pollicis longus (EPL) tendon of the hand is considered the most consistent structure with the least variation among individuals. There have been a few reports regarding different types of supernumerary tendons; however, an abnormal course of the EPL tendon is extremely rare. We describe a case of a variant course of a single EPL tendon appearing in the second extensor compartment of the wrist. This case was observed incidentally during wrist surgery, and demonstrates a unique variation of tendon course, which has not been reported previously. The knowledge of this anatomic variation is helpful in surgical planning and for making accurate diagnoses.

Preliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 years.

We describe two proof-of-concept trials of delayed non-operative therapy of multiple hand and wrist contractures in a woman with a severe expression of Freeman-Sheldon syndrome (FSS), at ages 24 and 28 years. Having presented as an infant to a university referral centre, passive correction was not accompanied by strengthening exercises, and correction was lost. FSS is described as a myopathic distal arthrogryposis; diagnosis requires the following: microstomia, whistling face appearance, H-shaped chin dimpling, nasolabial folds, and multiple hand and foot contractures. Spinal deformities, metabolic and gastroenterological problems, other craniofacial characteristics, and visual and auditory impairments, are frequent findings. To avoid possible FSS-associated complications of malignant hyperthermia and difficult intubation, and to reduce or eliminate need for surgery, we proceeded with passive manipulation without anaesthesia or sedation. We believe this is the first report of attempted non-operative correction of multiple hand and wrist contractures in an adult with FSS.

Surgical correction of ulnar deviation deformity of the wrist in patients with birth brachial plexus palsy sequelae.

Ulnar deviation deformity of the wrist in patients with birth brachial plexus palsy is an important cosmetic concern among the patients and their relatives; especially in the patients who have recovered the basic limb functions. Though there is ample literature available regarding the management of the shoulder deformity there is paucity of literature regarding management of wrist ulnar deviation deformity. We report our experience with correction of this deformity in five cases with isolated ulnar deviation deformity without forearm rotational deformity or weakness of the wrist muscles. All the patients underwent extensor carpi ulnaris (ECU) to extensor carpi radialis longus (ECRL) tendon transfer. At a minimum of 18 months follow-up all the patients and their families were satisfied with the cosmetic appearance of the limb. Correction of the deformity improves the appearance of the limb, improves self-confidence of the child, and allows them to integrate well into the society. Interestingly, the patients expressed improvement in their grip strength and overall hand function after this surgery. The notable functions which improved were easy reach of the hand-to-mouth for feeding and easy handling of the things requiring bimanual activities. Although the main aim of this operation was to correct the appearance of the hand it was found to be also functionally useful by the patients and hence we are encouraged to report it for wider use. The results were maintained during the follow-up period of as long as 47 months.

Músculos accesorios de la muñeca: revisión pictográfica en us y rm / Accesory muscle of the wrist: a pictographic review

Although the accessories muscles are part of our nature, to recognize them allows us to avoid confusion with other pathologies. Even some accessories wrist muscles may be symptomatic and require surgical intervention. In this paper we present the anatomy and imaging aspects of ultrasound and magnetic resonance imaging of these muscles, so that the radiologist can become familiar with them, avoiding unnecessary interventions or diagnostic errors.

Si bien los músculos accesorios son parte de nuestra naturaleza, el saber reconocerlos nos permite evitar confusiones con otras entidades patológicas. Incluso algunos músculos accesorios en la muñeca pueden ser sintomáticos y requerir intervención quirúrgica. En este trabajo exponemos la anatomía y aspectos imaginológicos en ultrasonido y resonancia magnética de dichos músculos, para que el radiólogo esté familiarizado con ellos, evitando errores diagnóstico o intervenciones innecesarias.

Deformidad de madelung: criterios actuales en radiografía simple / Madelung deformity: current criteria in radiography

Madelung deformity is a common finding in various conditions affecting the wrist, with characteristic changes in the radius, carpus and ulna, the most characteristic being the triangular configuration of the carpal and the ulnar inclination of the distal radial epiphysis. It can be seen on simple radiography, computed tomography or magnetic resonance. As radiologists, we must know the currently recommended criteria, having it present for early diagnosis in young patients, or when the deformity is already established in older patients.

La deformidad de Madelung constituye un hallazgo común de varias patologías que afectan a la muñeca, con alteraciones características en el radio, carpo y cúbito, siendo la configuración triangular del carpo y la inclinación cubital de la epífisis distal del radio los más característicos. Puede ser visto en radiografía simple, tomografía computada o resonancia magnética. Como radiólogos, debemos conocer los criterios recomendados en la actualidad, teniéndolos presentes para su diagnóstico precoz en pacientes jóvenes o cuando la deformidad ya está establecida en pacientes de edad más avanzada.

Flexor carpi radialis brevis: an unusual anomalous muscle of the wrist.

During imaging studies or surgical procedures, anomalous forearm and wrist muscles are occasionally encountered. Among them, the flexor carpi radialis brevis is very rare. Because the trend is growing toward treating distal radius fractures with volar plating, the flexor carpi radialis brevis is worth knowing. Here, we report two cases with a review of the literature.

Pitfalls in wrist and hand ultrasound.

OBJECTIVE: The purpose of this article is to review a number of diagnostic pitfalls related to ultrasound evaluation of the hand and wrist. Such pitfalls relate to evaluation of ten-dons (extensor retinaculum, multiple tendon fascicles, tendon subluxation), inflammatory arthritis (incomplete evaluation, misinterpretation of erosions, failure to evaluate for enthesitis), carpal tunnel syndrome (inaccurate measurements, postoperative assessment), ulnar collateral ligament of the thumb (misinterpretation of the adductor aponeurosis and displaced tear), wrist ganglion cysts (incomplete evaluation and misdiagnosis), and muscle variants. CONCLUSION: Although ultrasound has been shown to be an effective imaging method for assessment of many pathologic conditions of the wrist, knowledge of potential pitfalls is essential to avoid misdiagnosis and achieve high diagnostic accuracy.

Hand Function in Adults with Radial Longitudinal Deficiency.

BACKGROUND: Functional impairment in individuals with radial longitudinal deficiency can be influenced by several factors, including a short and bowed forearm, radial deviation of the wrist, a non-functional or absent thumb, limited finger motion, and impaired grip strength, but their relationship with activity and participation in adults with radial deficiency is not known. METHODS: Twenty individuals, eighteen to sixty years of age, who had Bayne type-II to V radial longitudinal deficiency, were examined in the context of the International Classification of Functioning, Disability and Health. Body function and structure were evaluated by measures of range of motion, grip strength, key pinch, sensibility, and radiographic parameters. Activity was evaluated by the Box and Block Test and the Sollerman test, and participation was evaluated by QuickDASH (the short form of the Disabilities of Arm, Shoulder and Hand outcome measure) and by the Medical Outcomes Study 12-Item Short Form Health Survey. Statistical correlations among assessments of body function and structure, activity, and participation were examined. RESULTS: The mean total active motion of the wrist (43°) and mean total active motion of the digits (377°) were less than the norms. The mean radial deviation of the wrist was 31°. The mean grip strength (4.0 kg), key pinch (1.4 kg), and scores for the Box and Block Test (55 blocks per minute) and the Sollerman test on hand function (56 points) were considerably lower than the norms. The mean scores were 18 points for QuickDASH, 51 points for Short Form-12 physical component summary, and 53 points for Short Form-12 mental component summary. Significant relationships were found between the Box and Block Test and grip strength (p = 0.012), key pinch (p < 0.001), and total active motion of digits (p < 0.001); between the Sollerman test and the total active motion of elbow (p < 0.001) and the total active motion of digits (p < 0.001); between the QuickDASH and forearm length (p < 0.001), the total active motion of elbow (p = 0.001), and the total active motion of digits (p < 0.001); between the Short Form-12 physical component summary and grip strength (p = 0.016), forearm length (p < 0.001), total active elbow motion (p < 0.001), and total active digit motion (p < 0.001); and between the Short-Form-12 mental component summary and radial deviation of the wrist (p = 0.019). No significant correlations were found between the radiographic measurement of the radial deviation of the wrist (total forearm angle) and the Box and Block Test (p = 0.244), the Sollerman test (p = 0.775), QuickDASH (p = 0.156), Short Form-12 physical component summary (p = 0.107), or Short Form-12 mental component summary (p = 0.129). CONCLUSIONS: In individuals with radial longitudinal deficiency, grip strength, key pinch, forearm length, and elbow and digital motion seem to be more important for the individual's activity and participation than the radial angulation of the wrist. LEVEL OF EVIDENCE: Prognostic Level IV. See Instructions for Authors for a complete description of levels of evidence.

The Liebenberg syndrome: in depth analysis of the original family.

The Liebenberg syndrome was first described in 1973 in a five- generation family. A sixth generation was added in 2001, and in 2009 a hitherto unknown branch of the same family with similar anomalies extended the family tree significantly. This article describes the clinical findings and illustrates the abnormalities with radiographs and three-dimensional computed tomography scans. We discuss the genetic abnormality that causes Liebenberg syndrome, the genomic rearrangement at the PITX1 locus on chromosome 5.The structural variations seem to result in an ectopic expression of paired-like homeodomain transcription factor 1 (PITX1) in the forelimb causing a partial arm-to-leg transformation in these patients.

[Clinical application of radial mid-forearm perforator fasciocutaneous flap].

OBJECTIVE: To investigate the effectiveness of using radial mid-forearm perforator fasciocutaneous flap to repair soft tissue defect in lower segment of the forearm and the wrist. METHODS: Between May 2007 and July 2012, 7 cases of soft tissue defect of lower segment of the forearm and the wrist were repaired with radial mid-forearm perforator fasciocutaneous flap. There were 6 males and 1 female with an average age of 38 years (range, 22-45 years). Defects were caused by crushing injury in 4 cases with the disease duration of 3-22 days (mean, 14 days), by internal fixation of ulnar comminuted fracture in 2 cases after 16 and 20 days of operation respectively, and by focal cleaning of wrist joint tuberculosis in 1 cases after 24 days of operation. The locations of defect were the lower segment of the forearm in 5 cases and the dorsal side of the wrist in 2 cases. The area of soft tissue defect ranged from 4 cm x 3 cm to 9 cm x 5 cm. The size of flap ranged from 6 cm x 4 cm to 12 cm x 6 cm. The donor site was closed with direct suturing or skin grafting. RESULTS: The intraoperative blood loss was 50- 90 mL (mean, 64 mL); the operation time was 60-80 minutes (mean, 72 minutes). Six flaps survived with wound healing by first intention; partial flap necrosis occurred in 1 case, and delayed healing was obtained after dressing change. Skin grafting at donor sites survived with healing of incision bly first intention. The patients were followed up 3-14 months (mean, 9 months). No ulcer or sinus tract was observed; all flaps showed a slightly swollen appearance and had normal color. CONCLUSION: Radial mid-forearm perforator fasciocutaneous flap does not need to dissect the source of blood vessels due to constantly anatomical structure. It has the advantages of easy operation, rich blood supply, high survival rate, and satisfactory clinical effect, so it is an important supplement of the other non-main vessel pedicle flaps to repair soft tissue defect in the lower segment of the forearm and the wrist.

Combined triggering at the wrist and fingers and severe carpal tunnel syndrome caused by macrodystrophia lipomatosa. Case report and review of literature.

Macrodystrophia lipomatosa (MDL) is a rare, congenital, developmental anomaly causing localized overgrowth of a digit(s) or extremity. Trigger wrist is a relatively rare entity, which may be caused by a mass originating from a tendon, an anomalous muscle or intracarpal pathologies. A 42-year-old male patient presented with triggering during active motion of the fingers and intractable pain and numbness in fingers to our emergency department. He had hypertrophy of the entire right upper extremity and his huge thumb was amputated due to MDL four years ago. The index finger was bigger than the other fingers and thenar eminence area of the hand looked like a large mass. Resection of hypertrophic carpal bone and debulking of large soft tissue mass removed the carpal tunnel symptoms and limited the range of motion of the wrist and fingers. This is a case report of triggering at the wrist and severe carpal tunnel syndrome due to carpal bone enlargement and lipofibromatous hamartoma (LH) of the median nerve in a patient with MDL.

Bilateral extensor digitorum brevis manus.

Dorsal wrist pain and swelling is commonly attributed to a dorsal wrist ganglion. However, based on the authors' experience, a cautious surgeon should keep the uncommonly symptomatic diagnosis of an extensor digitorum brevis manus in their differential despite classic ganglion presentation and suggestive advanced imaging. This article describes a case of a young patient who presented with bilateral symptomatic extensor digitorum brevis manus anomalies that required surgical intervention. An extensor digitorum brevis manus is present in 3% of the population in a classic anatomy study from Japan and is most commonly symptomatic with heavy activity and extremes of wrist extension. Anatomically, the extensor digitorum brevis manus is located in the fourth wrist compartment and most commonly inserts on the index finger extensor mechanism. Examination often reveals a spindle-shaped mass that is palpable distal to the extensor mechanism and moves with extensor tendon motion. Magnetic resonance imaging shows a typical dorsal mass distal to the common extensors with a similar signal as muscle with all image sequencing. Treatment includes activity alterations to relieve symptoms or surgical excision of the muscle belly for refractory cases with care taken to preserve the index extensor mechanism.

Utilización del doppler en masas tumorales de la muñeca / Use of doppler in tumor masses of the wrist

El Doppler no es el estudio de elección en el inicio de la evaluación de los tumores de la muñeca. No obstante su utilizacion es indispensable para la valoración y el diagnóstico diferencial de los mismos, ya que la mayoría de éstos presentan relación con estructuras vasculares de la región y/o se encuentran vascularizados. Por lo tanto el Doppler es un método indispensable en el algoritmo diagnóstico de estas patologías y en ciertas ocasiones es determinante para la categorización definitiva de la lesión.

An aberrant flexor digiti minimi brevis manus muscle.

During routine anatomical dissection in the right volar wrist region of a 43-year-old female cadaver, we discovered a unique flexor digiti minimi brevis (manus) muscle. The aberrant muscle arose from the medial edge of the flexor carpi radialis tendon and passed obliquely, distally and ulnarward, crossing over the median nerve and then the ulnar artery and nerve at the Guyon canal. The aberrant muscle inserted to the anteromedial surface of the base of the fifth proximal phalanx. The deep branch of the ulnar nerve innervated this muscle. The potential clinical implications of the variant flexor digiti minimi brevis muscle are briefly described.