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.

Accessory muscles: a cause of nerve compression in the distal forearm. Case report and literature review / Músculos accesorios: una causa de compresión nerviosa en el antebrazo distal. Reporte de casos y revisión de la Literatura

Nerve compression by anomalous muscles located at the wrist and distal forearm is an infrequent condition. Accessory muscles may compress underlying structures in the Carpal Tunnel region or ulnar canal , producing pain and paresthesia. Two cases of ulnar and median nerve compression, caused by prominent accessory muscles at the distal forearm, are described. Literature review is presented.

La compresión nerviosa causada por vientres musculares anómalos localizados en la muñeca y en el tercio distal del antebrazo es una condición poco frecuente. Músculos accesorios pueden comprimir estructuras subyacentes en la región del túnel del carpo o en el canal de ulnar, produciendo dolor y parestesia. Se presentan dos casos de compresión de los nervios ulnar y mediano en el tercio distal del antebrazo, causados por vientres musculares prominentes de músculos accesorios del antebrazo. Se presenta una revisión de la literatura.

Gantzer muscle. An anatomical study

OBJECTIVE: The relationship of Gantzer muscle to the median and anterior interosseous nerve is debated. METHODS: Ìn an anatomical study with 80 limbs from 40 cadavers the incidence, origin, insertion, nerve supply and relations of Gantzer muscle have been documented. RESULTS: The muscle was found in 54 forearms (68% of limbs) and was supplied by the anterior interosseous nerve. It arose from the deep surface of the flexor digitorum superficialis muscle, (42 limbs), coronoid process (eight limbs) and medial epicondyle (seven limbs). Its insertion was to the ulnar part of flexor pollicis longus muscle. The Gantzer muscle always lay posterior to both the median and anterior interosseous nerve. CONCLUSION: The Gantzer muscle may contribute to the median nerve and anterior interosseous nerve compression. The muscle was found in 68% of limbs and should be considered a normal anatomical pattern rather than an anatomical variation. Level of Evidence IV, Case Series.

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.

Changing Paradigms in the Treatment of Radial Club Hand: Microvascular Joint Transfer for Correction of Radial Deviation and Preservation of Long-term Growth

Radial longitudinal deficiency, also known as radial club hand, is a congenital deformity of the upper extremity which can present with a spectrum of upper limb deficiencies. The typical hand and forearm deformity in such cases consists of significant forearm shortening, radial deviation of the wrist and hypoplasia or absence of a thumb. Treatment goals focus on the creation of stable centralized and functionally hand, maintenance of a mobile and stable wrist and preservation of longitudinal forearm growth. Historically centralization procedures have been the most common treatment method for this condition; unfortunately centralization procedures are associated with a high recurrence rate and have the potential for injury to the distal ulnar physis resulting in a further decrease in forearm growth. Here we advocate for the use of a vascularized second metatarsophalangeal joint transfer for stabilization of the carpus and prevention of recurrent radial deformity and subluxation of the wrist. This technique was originally described by the senior author in 1992 and he has subsequently been performed in 24 cases with an average of 11-year follow-up. In this paper we present an overview of the technique and review the expected outcomes for this method of treatment of radial longitudinal deficiency.

Changing Paradigms in the Treatment of Radial Club Hand: Microvascular Joint Transfer for Correction of Radial Deviation and Preservation of Long-term Growth

Radial longitudinal deficiency, also known as radial club hand, is a congenital deformity of the upper extremity which can present with a spectrum of upper limb deficiencies. The typical hand and forearm deformity in such cases consists of significant forearm shortening, radial deviation of the wrist and hypoplasia or absence of a thumb. Treatment goals focus on the creation of stable centralized and functionally hand, maintenance of a mobile and stable wrist and preservation of longitudinal forearm growth. Historically centralization procedures have been the most common treatment method for this condition; unfortunately centralization procedures are associated with a high recurrence rate and have the potential for injury to the distal ulnar physis resulting in a further decrease in forearm growth. Here we advocate for the use of a vascularized second metatarsophalangeal joint transfer for stabilization of the carpus and prevention of recurrent radial deformity and subluxation of the wrist. This technique was originally described by the senior author in 1992 and he has subsequently been performed in 24 cases with an average of 11-year follow-up. In this paper we present an overview of the technique and review the expected outcomes for this method of treatment of radial longitudinal deficiency.

Supranumerary muscle of the extensor indicis

It was found an unusual anatomical variation in a male cadaver that is consistent with the existence of anaccessory muscle in the posterior area of the third distal of the forearm. Such structure arises in the posteriorface of ulna and is fixed in the back of the proximal phalange of the middle finger. The described variation isalso useful to the hand surgeon, as the anomalous muscle is an anatomical landmark for operations at this area.To our knowledge, this variation has not been cited in recent medical literature.

Clinical implications of additional heads of biceps brachii muscle

Biceps brachii is a superficial muscle of the flexor compartment of arm. It is a strong flexor and a supinator of forearm. It is one of the most variable muscles in terms of number of its heads of origin, so the present study proposes to dissect North Indian cadavers to see the frequency of occurrence of more than two heads of biceps brachii and discusses its clinical implications. To determine the prevalence of accessory heads of biceps brachii, their inervation and any anomalous course of neurovascular bundle in the front of arm. Number of heads of biceps brachii muscle were studied in 77 adult human cacdavers [n-154]. Presence of additional heads of biceps brachii and any variation in the course of neurovascular bundle in the front of arm were noted. It was observed that the left upper limb of only one middle aged male cadaver had four heads of origin of biceps brachii i.e. the long head from supraglenoid tubercle of scapula, short head from tip of coracoid process of scapula and the two accessory heads from the anteromedial surface of the humerus between the insertion of coracobrachialis and the origin of brachialis. The musculocutaneous nerve took origin from the lateral cord normally and pierced through coracobrachialis to enter the flexor compartment of forearm. Then it passed between the two accessory heads before supplying brachialis and continued as lateral cutaneous nerve of forearm. Each head of biceps brachii was individually innervated by fibers from musculocutaneous nerve. No other anomalies in the neurovascular bundle were observed. Awareness of the different course of musculocutaneous nerve and origin of supernumerary heads of biceps brachii is of importance to academicians, surgeons, traumatologists, orthopaedicians and plastic

Fascículo supernumerario del músculo abductor del dedo mínimo de la mano: importancia anatómica y clínica / Supernumerary fascicle of the abductor digiti minimi muscle of the hand: anatomical and clinical importance

La existencia de músculos supernumerarios originados en el antebrazo, con un vientre muscular prolongándose hasta la mano, es infrecuente y por lo mismo, no existe mucha literatura sobre el tema, a pesar que estos músculos podrían producir síndromes de compresión a nivel del túnel carpiano o del túnel ulnar. Describimos la presencia de un fascículo supernumerario del músculo abductor del dedo mínimo, encontrado en el antebrazo y mano de un cadáver formolizado, de sexo masculino, adulto, disecado en la Unidad de Anatomía de la Facultad de Medicina de la Universidad de La Frontera, Chile. El músculo supernumerario destinado al dedo mínimo, se originaba por medio de fibras carnosas, en el tercio distal del antebrazo, desde el tendón de un músculo palmar largo accesorio. Con estrecha relación con los vasos y nervio ulnares, se insertaba junto a los músculos abductor del dedo mínimo, flexor corto del dedo mínimo y parte del oponente del dedo mínimo, en la falange proximal del dedo mínimo de la mano. Este fascículo muscular mantenía estrechas relaciones anatómicas, a nivel del carpo, con el nervio ulnar, pudiendo haber causado una eventual compresión de este nervio a su paso por el canal ulnar.

The existence of the supernumerary muscles originated in the forearm, with the muscular belly prolonging to the hand is infrequent. Therefore, there is not much literature available regarding this subject, despite that these muscles could produce symptoms of compression at the carpal tunnel or ulnar tunnel level. We describe the presence of a supernumerary fascicle of the abductor digiti minimi muscle, located in the forearm and hand of a formolized adult male cadaver, dissected at the Anatomy Unit of the Faculty of Medicine of the Universidad de La Frontera, Chile. The supernumerary muscle destined to the digiti minimi, originated by means of carnous fibers in the distal tertium of the forearm from the tendon of an accessory palmaris longus muscle. Closely related with the ulnar vessels and ulnar nerve, it inserted along with the abductor the digiti minimi muscle, flexor digiti minimi brevis muscleand part of the opponens digiti minimi muscle, in the proximal phalanx digiti minimi of the hand. This muscular fascicle maintained a close anatomical relation at the carpal level, with the ulnar nerve, possibly having caused an eventual compression of this nerve on its passage through the ulnar canal.

Incidence of palmaris longus muscle absence in nigerian population / Incidencia de la ausencia del músculo palmar largo en la población de Nigeria

A lot has been reported about variation of palmaris longus muscle in journals and conventional textbooks. The incidence of palmaris longus muscle absence among people of the six geo-political zones of Nigeria was evaluated using 600 subjects. 31.25 percent (187 subjects) lack palmaris longus muscleon either of the forearms. 12.5 percent (75 subjects) shows unilateral absence and 18.75 percent (112 subjects) shows bilateral absence. 25 percent (150) of subjects lacks palmaris longus muscleon their right forearms while 25 percent also lacks it on their left forearms. 6 percent (37) shows double tendons of palmaris longus muscleon both forearms. Highest incidence of absence was recorded among people of South-West zone.

Mucho se ha informado acerca de la variación del músculo palmar largo en revistas y libros de texto convencionales. La incidencia de ausencia del músculo palmar largo entre las personas de las seis zonas geo-políticas de Nigeria se evaluó usando 600 sujetos. 31,25 por ciento (187 sujetos) no tenían músculo palmar largo en cualquiera de los antebrazos, 12,5 por ciento (75 sujetos) mostró ausencia unilateral y 18,75 por ciento (112 sujetos) mostró ausencia bilateral. 25 por ciento (150) de los sujetos carece de músculo palmar largo en su antebrazo derecho, mientras que el 25 por ciento carece de él también en su antebrazo izquierdo. 6 por ciento (37) muestra dobles tendones de músculo palmar largo en ambos antebrazos. Mayor incidencia de ausencia se registró entre las personas de la zona Sur-Oeste.

Additional muscle slip of flexor carpi ulnaris associated with anomalous ulnar nerve and ulnar artery in the distal forearm / Fascículo adicional del músculo flexor ulnar del carpo asociado con una variación del nervio ulnar y arteria ulnar en la parte distal del antebrazo

During routine dissection classes to under graduate medical students, we observed an anomalous flexor carpi ulnaris muscle associated with abnormal ulnar nerve and ulnar artery in the distal part of forearm. There was an additional belly arising from the lower part of the flexor carpi ulnaris muscle and crossed ulnar nerve and vessels, median nerve and ended in a broad aponeurosis which crossed the tendons of flexor digitorum superficialis and merged with the deep fascia and flexor retinaculum. The ulnar nerve and ulnar artery divided into their terminal branches in the lower part of the forearm. However, the distribution of the terminal branches of both ulnar nerve and artery were normal. An understanding of these unusual findings may be clinically relevant in describing the anterior compartment of the forearm.

Durante una disección de rutina en clases para estudiantes de Medicina, se observó una anomalía del músculo flexor ulnar del carpo asociado con una variación del nervio y arteria ulnar, en la parte distal del antebrazo. Un vientre adicional derivado de la parte inferior del músculo flexor ulnar del carpo cruzaba el nervio ulnar y vasos ulnares, nervio mediano y terminaba en una amplia aponeurosis la cual cruzaba los tendones del músculo flexor superficial de los dedos y se fusionaba con la fascia profunda y el retináculo flexor. El nervio ulnar y la arteria ulnar se dividían en sus ramas terminales, en la parte inferior del antebrazo. Sin embargo, la distribución de las ramas terminales tanto del nervio ulnar como de la arteria ulnar eran normales. La comprensión de estos inusuales hallazgos pueden ser clínicamente relevantes para describir el compartimiento anterior del antebrazo.

Método de Ilizarov na correçäo das deformidades no antebraço / Ilizarov method for the correction of forearm deformities

Os autores revisaram 10 casos de deformidade no antebraço, de diferentes etiologias, apresentando basicamente perda óssea conseqüente a fraturas infectadas e encurtamento do rádio devido a seqüelas de lesao fisária, tratados pelo método de Ilizarov. Os pacientes foram submetidos a transporte ósseo e alongamento. Avaliaram-se a correçao da deformidade, a formaçao do osso regenerado, a consolidaçao da pseudartrose, quando presente, os resultados funcionais e as complicaçoes. O método de Ilizarov foi eficaz na correçao da perda óssea e na restauraçao do comprimento do segmento alongado. No entanto, procedimentos complementares, como enxerto ósseo, devem ser considerados para acelerar a consolidaçao da pseudartrose e abreviar o tempo de permanência do fixador. Resultados funcionais excelentes e bons foram conseguidos em 70 por cento dos casos. As complicaçoes mais freqüentes foram refratura e nao consolidaçao da pseudartrose.

Correçäo de falhas ósseas diafisárias dos ossos do antebraço: emprego do enxerto ósseo em bloco do ilíaco / Correction of diaphyseal defect of the forearm bones: use of bone block graft from the iliac crest

Os autores relatam sua experiência com o emprego do enxerto ósseo em bloco da crista ilíaca na correçao de falhas diafisárias dos ossos do antebraço. A técnica foi utilizada em 12 pacientes (dez homens e duas mulheres, idade média de 29 anos), para falhas resultantes principalmente de fraturas fechadas ou expostas, que apresentaram infecçao e perda de substância óssea. As dimensoes médias do enxerto necessário para corrigir o defeito foram de 3,5 x 1,8cm. A aplicaçao do enxerto foi combinada com a fixaçao rígida com uma placa AO de compressao dinâmica de 3,5mm, permitindo mobilizaçao ativa. O enxerto integrou-se sem necessidade de procedimentos adicionais de enxertia em dez casos, num prazo médio de 17,2 semanas. A complicaçao mais freqüente foi a infecçao (quatro casos), controlada por meio de desbridamentos, limpeza cirúrgica e antibióticos. A análise comparativa das radiografias iniciais e finais mostrou perdas média de 30 por cento da massa óssea do enxerto, apesar da integraçao. Os autores concluíram que a técnica do enxerto em bloco para a correçao das falhas ósseas diafisárias do rádio e da ulna é relativamente fácil de executar e apresenta alto índice de sucesso.

Simultaneous flexor carpi ulnaris transfer and selected flexor origin release for pronation flexion deformity of the forearm and hand in spastic paralysis

A procedure of simultaneous flexor carpi ulnaris [FCU] transfer and selected flexor pronation origin [FPO] release was presented for the treatment of 35 hemiplegic cerebral palsy patients with pronation flexion deformity of the forearm, h and and wrist. The patients were divided into four groups as regards the severity of deformity, surgical recommendation, potential h and function and prognosis. Pattern A included six patients with very mild deformity treated by FCU transfer and selected release of pronator teres origin with a very good functional result. Pattern B included 15 patients with mild deformity treated by FCU transfer and selected release of FPO from the medial epicondyle only with a good functional result. Pattern C included nine patients with moderate deformity treated by FCU transfer and selected release of FPO from the medial epicondyle and upper third of the forearm with a fair functional result. Pattern D included five patients with severe deformity treated as pattern C but to improve the appearance and hygiene with a poor functional result. This procedure reduced the power of wrist and finger's flexion by the release of FPO and reinforced the power of wrist extension and supination by FCU transfer. After a mean of four years follow up, the appearance of the h and and forearm was improved in all patients. No patient lost any motion and all patients gained some forearm, wrist and h and motion and there was not overcorrection of the h and or wrist deformities

Holt-Oram syndrome in a Ghanaian infant

A female infant with Holt-Oram syndrome of skeletal and cardiovascular anomalies is described

Discondrosteosis de Leri-Weill / Leri-Weill's dyschondrosteosis

Se presenta un caso de una niña portadora de un enanismo de tipo mesomélico con compromiso de las 4 extremidades, que se acompaña de deformidad bilateral de muñecas que radiológicamente corresponde a una deformidad de Madelung, lo que hace altamente posible el diagnóstico de Discondrosteósis o Síndrome de Leri-Weill. Se discute la fisiopatología de esta malformación, su etiología genética y el diagnóstico diferencial