RESUMEN
PURPOSE: A deep knowledge of the variations of the posterior forearm musculature is crucial for assessing and diagnosing conditions in this region. Extensor indicis (EI) is one of the muscles in this region, which exhibits diverse anatomical variations. This report documents an extremely unusual form of the EI with an accessory head on the dorsum of the hand. METHODS: During routine dissection, an extremely rare presentation of the EI was found in the left forearm of a 94-year-old female cadaver. RESULTS: This unusual EI consisted of two muscle bellies. The traditional belly originated from the distal two-thirds of the ulna. The muscle became tendinous around the carpal area, distal to the extensor retinaculum. The tendon was subsequently joined by an accessory muscle belly originating from the distal radioulnar ligament. The EI tendon inserted onto the dorsal expansion of the index finger, ulnar to that of the extensor digitorum. The posterior interosseous nerve innervated the muscle. CONCLUSION: Herein, we report an extremely rare form of the EI. To our knowledge, EI with an accessory head has only been reported rarely over the past 200 years. Moreover, our report appears to be the first case with photographic details of this anatomical variation. Clinicians should be aware of this variation for proper diagnosis and treatment.
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Variación Anatómica , Cadáver , Antebrazo , Músculo Esquelético , Humanos , Femenino , Anciano de 80 o más Años , Músculo Esquelético/anomalías , Músculo Esquelético/anatomía & histología , Antebrazo/anomalías , Antebrazo/inervación , Tendones/anomalías , Tendones/anatomía & histología , DisecciónRESUMEN
The extensor digitorum profundus complex underwent degeneration of the ulnar segments during primate adaptation and evolution. This process resulted in the preservation of only the extensor pollicis longus and extensor indicis in some apes, including humans. Consequently, anatomical variations within the digitorum profundus complex in modern humans have been well-documented, with detailed reports on their frequency and patterns in previous studies. Here, we report an unusual arrangement involving two anomalies in the extensor digitorum profundus complex, identified in a 66-year-old Japanese male cadaver. In this cadaver, two accessory muscles differentiated from both the extensor pollicis longus and extensor indicis. Notably, the latter muscle featured a tendon bifurcating towards both the thumb and index fingers, referred to as the extensor pollicis et indicis communis. Under the extensor retinaculum, the tendon of the accessory extensor pollicis longus passed through an independent compartment, whereas that of the extensor pollicis et indicis communis traversed a compartment shared by the extensor indicis and the extensor digitorum communis. Both muscles were innervated by the posterior interosseous nerve. Previous studies have reported that the accessory slip of the extensor pollicis longus and extensor pollicis et indicis communis appear at frequencies of 0.6% and 0.4-1.4%, respectively. However, to the best of our knowledge, a configuration in which both appear simultaneously has not been reported. The data from this case could provide essential insights into the variations in the extensor digitorum profundus complex in humans and non-human primates.
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Cadáver , Músculo Esquelético , Tendones , Humanos , Masculino , Anciano , Músculo Esquelético/anomalías , Músculo Esquelético/anatomía & histología , Tendones/anomalías , Tendones/anatomía & histología , Dedos/anomalías , Dedos/anatomía & histología , Variación Anatómica , Pulgar/anomalíasRESUMEN
RATIONALE: We present a clinical case of flexor digitorum superficialis (FDS) muscle belly of the small finger originating from the palm of a patient undergoing carpal tunnel surgery with a literature review. PATIENTS CONCERN: A 28-year-old right-handed woman visited our hospital with a chief complaint of a continuous tingling sensation and weakness in the right hand, which began after the volar side of her wrist was crushed by a machine during work 2 weeks prior. The patient complained of a continuous tingling sensation in the thumb, index, and middle fingers. The patient had a positive result on Tinel test of the median nerve of the wrist. As electromyography and nerve conduction velocities showed signs of severe injury in the right median nerve, exploration and carpal tunnel release were planned. DIAGNOSIS: Carpal tunnel release was performed under regional anesthesia using the classical open approach. The median nerve in the distal forearm and distal portion of the flexor retinaculum appeared to be narrowed and compressed. An anomalous muscle originating from the flexor retinaculum is also observed. INTERVENTION: The FDS muscle of the small finger was excised at the flexor retinaculum and musculotendinous junction and sutured to the flexor digitorum profundus tendon. OUTCOME: At the 37-month follow-up, the patient did not experience any tingling sensation or weakness. She showed excellent range of motion of the right small finger. The grip strength was 20 kg on both the right and left sides. Quick disabilities of the arm, shoulder, and hand score was 2.3. CONCLUSION: Asymptomatic small finger FDS muscle anomalies can occur, as demonstrated in this case study. Thus, physicians should familiarize themselves with small finger FDS muscle anomalies during interactions with patients to facilitate future treatments of patient complaints related to the hand, as well as wrist laceration or trauma requiring hand exploration.
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Síndrome del Túnel Carpiano , Deformidades de la Mano , Humanos , Femenino , Adulto , Antebrazo , Músculo Esquelético/cirugía , Tendones/anomalías , Dedos/anomalías , Pulgar , Síndrome del Túnel Carpiano/diagnóstico , Síndrome del Túnel Carpiano/cirugíaRESUMEN
OBJECTIVE: To compare two clinical tests used for assessment of absence of palmaris longus, and to determine the prevalence of the absence of palmaris longus among ethnic groups in a cosmopolitan setting. Methods: The cross-sectional descriptive study was conducted at the Bahria University Health Sciences, Karachi, from April 2021 to May 2022, during which forearms belonging to Sindhi, Punjabi and Urdu-speaking ethnic groups were tested. Assessment of presence or absence of palmaris longus was performed using Schaeffer's and Thompson's tests. Agenesis and association of ethnicity and agenesis were compared. Data was analysed using SPSS 23. RESULTS: Of the 250 subjects, 152(60.8%) were females and 98(39.2%) were males. The overall mean age was 20.4±2.23 years (range: 18-23 years). In terms of ethnicity, 100(40%) subjects each were Punjabis and Urdu-speaking, while 50(20%) were Sindhis. The total forearms assessed were 500. The overall agenesis was 186(37.2%). When the two assessment tests were compared, highly significant differences were noted (p<0.000). Overall agenesis was highest among Sindhis 40%, followed by 38% in Punjabis, and 35% in Urdu-speaking. Significant differences were observed when one-sided palmaris longus absence was compared with two-sided absence (p<0.037). Conclusion: Schaeffer's test had more accuracy compared to the Thompson's test in the determination of palmaris longus agenesis. There were variations in terms of agenesis among the ethnic groups.
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Etnicidad , Tendones , Masculino , Femenino , Humanos , Adolescente , Adulto Joven , Adulto , Tendones/anomalías , Antebrazo , Estudios Transversales , Músculo EsqueléticoRESUMEN
Anomalous variants of the extensor tendons in the first and third compartments of the wrist have been described following cadaveric study. Being aware of such variants during either an elective or emergency hand surgery will prove beneficial in the execution of the extensor tendon repairs. A very few clinical reports are available in the literature. We report a rare finding of extensor pollicis brevis tendon accompanying the solitary extensor pollicis longus tendon in the third compartment observed during an emergency trauma surgery.Level of evidence V.
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Músculo Esquelético , Tendones , Humanos , Tendones/cirugía , Tendones/anomalías , Muñeca , Articulación de la Muñeca , Mano , PulgarRESUMEN
BACKGROUND: The first dorsal compartment of the wrist includes tendons of abductor pollicis longus (APL) and extensor pollicis brevis (EPB). However, many studies have showed multiple anatomical variations including anomalies in the number of both APL and EPB tendons and presence of intercompartmental fibro-osseous septum. Unfortunately, studies describing those variations are not consistent, hence, the aim of this study was to provide most accurate data about these anatomical variations in the population, using systematic review and meta-analysis. MATERIALS AND METHODS: For this purpose, PubMed, Scopus, Web of Science, Embase and a number of minor online libraries were searched. Articles which included exact data about the number of APL or EPB tendons or a presence of intercompartmental septum were qualified for a more precise evaluation. Therefore, out of 1629 studies initially evaluated, 68 were finally included in this meta-analysis. We followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. RESULTS: A total of 5229 studied wrists have been included in this study. Double APL and single EPB are the most common variations of tendons in the first dorsal compartment, both in cadavers and patients with de Quervain's disease, with no statistically significant differences between those two groups. Presence of intercompartmental fibro-osseus septum is much more common in patients with de Quervain's disease than in cadavers. CONCLUSIONS: Our results should improve the awareness of anatomical variations in the first dorsal compartment, which in turn should have impact on treatment of de Quervain's disease in clinical practice.
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Enfermedad de De Quervain , Muñeca , Humanos , Articulación de la Muñeca , Tendones/anomalías , CadáverRESUMEN
An interesting case of unusual unilateral variant of palmaris longus (PL) tendon of forearm was noticed by us. We found two bellies of PL as well as their different insertions. These observations will help in understanding morphological variations of this muscle and its clinical implications. PL is a fusiform muscle in the superficial flexor group of muscles of forearm. It originates from medial epicondyle of humerus by common flexor tendon. We found PL having one origin, i.e., from medial epicondyle from common tendinous origin of flexor muscles and then it divided to form two bellies having two long tendons distally. Understanding of presence or absence or anomalies of PL is not only important for medical professionals but also for evolutionary biologists. Awareness of anatomy and variations of flexor tendons is important for health care practitioners for the correct diagnosis and management of pain, disease, and trauma of forearm and hand.
Résumé Nous avons remarqué un cas intéressant de variante unilatérale inhabituelle du tendon du long palmaire (PL) de l'avant-bras. Nous avons retrouvé deux ventres de PL ainsi que leurs différentes insertions. Ces observations aideront à comprendre les variations morphologiques de ce muscle et ses implications cliniques. Le PL est un muscle fusiforme du groupe des muscles fléchisseurs superficiels de l'avant-bras. Il provient de l'épicondyle médial de l'humérus par le tendon fléchisseur commun. Nous avons trouvé que le PL avait une origine, c'est-à-dire de l'épicondyle médial provenant de l'origine tendineuse commune des muscles fléchisseurs, puis il s'est divisé pour former deux ventres ayant deux longs tendons distalement. Comprendre la présence, l'absence ou les anomalies de PL est non seulement important pour les professionnels de la santé mais également pour les biologistes évolutionnistes. La connaissance de l'anatomie et des variations des tendons fléchisseurs est importante pour les praticiens de la santé afin de diagnostiquer et de gérer correctement la douleur, la maladie et les traumatismes de l'avant-bras et de la main. Mots-clés: Palmaris longus, greffe tendineuse, variation, contracture ischémique de Volkmann.
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Antebrazo , Músculo Esquelético , Humanos , Antebrazo/anatomía & histología , Músculo Esquelético/anomalías , Tendones/diagnóstico por imagen , Tendones/anomalías , ManoRESUMEN
Palmaris longus is a muscle that is located in the anterior compartment of the forearm. Among the muscles belonging to the flexor compartment of forearm, palmaris longus is located at the most superficial position and that is why it is easy to access. It exhibits high variability and its prevalence ranges between 1.5% and 63.9%. The knowledge of prevalence of agenesis of palmaris longus is essential both in terms of updating anatomical information and also for physicians, radiologists, physiotherapists and surgeons. The surgeons must know about the variability as it may be beneficial while they plan surgeries involving the palmaris muscle as a graft. The current narrative review was planned to highlight the variability pattern of palmaris longus muscle in terms of prevalence, gender and laterality. Palmaris longus agenesis is more common in females and on the left side. Besides, unilateral agenesis is more common compared to bilateral agenesis.
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Antebrazo , Tendones , Femenino , Antebrazo/cirugía , Humanos , Masculino , Músculo Esquelético , Examen Físico , Prevalencia , Tendones/anomalías , Tendones/trasplanteRESUMEN
In this case report, we describe an adult patient with bilateral congenital absence of the m. flexor pollicis longus (FPL) without any other anomalies or thenar atrophy. The FPL muscle acts to flex the thumb and is innervated by the anterior interosseous nerve. Impaired function of the FPL muscle may have several causes. A bilateral anomaly of the FPL tendon is a rare phenomenon, with only a few cases having been reported. This case report does not only demonstrate the diagnosis of bilateral FPL tendon anomaly by physical examination and magnetic resonance imaging, it also includes the embryological development of the FPL muscle and tendon.
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Tendones , Pulgar , Adulto , Atrofia , Humanos , Músculo Esquelético/diagnóstico por imagen , Tendones/anomalías , Tendones/diagnóstico por imagen , Pulgar/anomalías , Pulgar/diagnóstico por imagen , MuñecaRESUMEN
Anatomical variations may entail increased volume within the carpal tunnel and consequently the development of carpal tunnel syndrome (CTS) symptoms. The clinical importance of anomalous connection between the flexor pollicis longus (FPL) and flexor digitorum profundus (FDP) tendons was described by Linburg and Comstock. The objective of the present study was to compare postoperative outcomes of carpal tunnel release surgery in patients with and without Linburg-Comstock anomaly (LCA). Hands of CTS patients with and without LCA were evaluated for finger sensitivity, grip, tip, key and tripod pinch strength, pain intensity and Boston Carpal Tunnel Questionnaire score. Patients were evaluated preoperatively and 1, 3 and 6 months after surgery. Forty-six hands in 36 CTS patients with LCA and 50 hands in 38 patients without LCA were included. On all study parameters, no significant difference was found between CTS patients with versus without LCA. As outcomes are similar in both cases, LCA resection is not useful in patients with LCA and CTS. Preoperative diagnosis is unnecessary and screening for LCA is non-contributive for CTS evaluation.
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Síndrome del Túnel Carpiano , Deformidades Congénitas de la Mano , Síndrome del Túnel Carpiano/cirugía , Dedos , Mano , Deformidades Congénitas de la Mano/cirugía , Humanos , Tendones/anomalías , Tendones/cirugíaRESUMEN
OBJECTIVE: Report an association between congenital stapes footplate fixation (CSFF) and radiological absence of the pyramidal eminence and stapedial tendon. PATIENTS: Children and adults with intraoperatively confirmed CSFF and an absent stapedial tendon. INTERVENTIONS: Computed tomography (CT); exploratory tympanotomy with stapedotomy. MAIN OUTCOME MEASURES: Absence of a pyramidal eminence and stapedial tendon aperture identified on preoperative CT that was confirmed intraoperatively. RESULTS: Eight patients with intraoperative confirmation of CSFF and absent stapedial tendon were retrospectively identified. The average preoperative bone conduction and air conduction pure tone averages were 19.6 dB (SD 15.6 dB) and 55.9 dB (SD 23.6 dB), respectively. The average air-bone gap was 36.3 dB (SD 17.9 dB) preoperatively. In the seven patients who underwent preoperative CT, all were consistently identified to have an absent or hypoplastic pyramidal eminence and absent stapedial tendon aperture at the pyramidal eminence. In six cases, the stapedial footplate appeared normal, while in one case the footplate appeared abnormal which correlated with severe facial nerve prolapse observed intraoperatively. All eight cases underwent exploratory tympanotomy and demonstrated intraoperative stapes footplate fixation, absent stapedial tendon and either absent or hypoplastic pyramidal eminence, which correlated with preoperative CT findings. CONCLUSIONS: This study identifies a clinically pragmatic association between an absent pyramidal eminence identified on high-resolution CT and the diagnosis of CSFF. In a condition that otherwise generally lacks distinctive radiological features, the absence of a pyramidal eminence on CT in a patient with nonprogressive, congenital conductive hearing loss may strengthen clinical suspicion for CSFF.
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Pérdida Auditiva Conductiva/etiología , Pérdida Auditiva Conductiva/cirugía , Estapedio/anomalías , Estapedio/cirugía , Cirugía del Estribo/métodos , Tendones/anomalías , Tendones/cirugía , Adolescente , Adulto , Conducción Ósea , Niño , Enfermedades del Nervio Facial/complicaciones , Femenino , Pérdida Auditiva Conductiva/congénito , Pérdida Auditiva Conductiva/diagnóstico por imagen , Humanos , Periodo Intraoperatorio , Masculino , Prolapso , Estudios Retrospectivos , Estapedio/diagnóstico por imagen , Estapedio/fisiopatología , Tendones/diagnóstico por imagen , Tendones/fisiopatología , Tomografía Computarizada por Rayos X , Adulto JovenRESUMEN
The cyamella is a rare, generally asymptomatic, knee sesamoid bone located in the proximal tendon of the popliteal muscle. Only two studies have investigated cyamella presence/absence in humans, putting ossified prevalence rates at 0.57%-1.8%. We aim to (a) determine cyamella prevalence in a Korean population, (b) examine coincident development of the cyamella and fabella, and (c) perform a systematic review and meta-analysis on the cyamella in humans. Medical computed tomography scans of 106 individuals were reviewed. A systematic review and meta-analysis were performed following PRISMA guidelines. Cyamellae were found in 3/212 knees (1.4%), and presence/absence was uncorrelated to height, age, and sex. The cyamella was not found coincidentally with the fabella, although the statistical power was low. Our systematic review/meta-analysis revealed cyamellae were generally asymptomatic and ossification could occur at 14 years. Cyamellae were equally likely to be found in both sexes, knees, one or both knees, and there appeared to be no global variation in prevalence rates. Cyamellae were found in three distinct locations. There is little support for the role of intrinsic genetic and/or environmental factors in cyamella development in humans. However, the apparent phylogenetic signal in Primates suggests genetics plays a role in cyamella development. We propose a cyamella classification system based on cyamella location (Class I, popliteal sulcus; Class II, tibial condyle; Class III, fibular head) and hypothesize locations may correspond to distinct developmental pathways, and cyamella function may vary with location.
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Calcinosis/epidemiología , Articulación de la Rodilla , Huesos Sesamoideos/anomalías , Tendones/anomalías , Humanos , Prevalencia , República de Corea/epidemiologíaRESUMEN
PURPOSE: The main tendon of the extensor hallucis longus (EHL) muscle attaches to the dorsal aspect of the distal phalanx of the great toe. One or multiple accessory tendons of the EHL have been reported in several ethnic/regional groups, except Taiwan. This study aimed to investigate the incidence, length, and insertion of the accessory tendon of the EHL in Taiwanese people. METHODS: Anatomical dissection was performed on 48 feet of 24 formalin-embalmed cadavers. The occurrence and morphological characteristics of the accessory tendon of the EHL were recorded and analyzed. RESULTS: The accessory tendon of the EHL was found in 97.92% (47/48) of the legs that were dissected. In one male cadaver, an independent muscle belly was identified in each leg, whereas all the other accessory tendons originated from the main tendon of the EHL. In this study, the insertion of the accessory tendon were classified into four patterns. The most common insertion sites were the first metatarsophalangeal (MTP) joint capsule and proximal phalanx of the great toe. The length of the accessory tendons did not correlate with age or with sex when the two tendons with independent muscle belly were excluded. CONCLUSIONS: The accessory tendon of the EHL appears to be a regular feature in Taiwanese people. Most accessory tendons of the EHL (85.7%) attached on the first MTP joint capsule may play a role in the prevention of capsular impingement during great toe extension.
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Variación Anatómica , Hallux/anomalías , Músculo Esquelético/anomalías , Tendones/anomalías , Factores de Edad , Anciano , Anciano de 80 o más Años , Cadáver , Disección , Femenino , Humanos , Cápsula Articular/anomalías , Masculino , Articulación Metatarsofalángica/anomalías , Persona de Mediana Edad , Factores Sexuales , TaiwánRESUMEN
Extensor hallucis capsularis (EHC) is an accessory tendon located medially to extensor halluces longus (EHL) tendon. Most EHC is known to originate as a tendinous slip of the EHL tendon, although it may be splitted from the tibialis anterior (TA) tendon or the extensor halluces brevis (EHB) tendon. During routine dissection of a 49-year-old male cadaver, independent muscle bellies of EHC were discovered bilaterally. The EHL muscle arose from the middle anteromedial aspect of fibula, lateral to the origin of TA muscle and medial to extensor digitorum longus (EDL) muscle. An additional muscle bellies were separated from EHL muscle at the point of 6 cm away from EHL origin in the right leg, and 3 cm away in the left. They coursed downward as EHC to reach the first metatarsophalangeal joint capsule. This muscle, unlike the variations identified to date, is considered to extend to EHC, and the name "extensor hallucis capsularis muscle" is offered. This kind of variation may be important for investigating the development of deformity at the first metatarsophalangeal joint, such as hallux valgus.
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Variación Anatómica , Hallux/anomalías , Músculo Esquelético/anomalías , Tendones/anomalías , Cadáver , Hallux Valgus/etiología , Humanos , Cápsula Articular/anomalías , Masculino , Articulación Metatarsofalángica/anomalías , Persona de Mediana EdadRESUMEN
OBJECTIVES: The tendon of the palmaris longus is commonly used as a tendon graft in many reconstructive surgeries. Palmaris longus absence (PLA) was found in 15% among individuals worldwide. In this prospective study, we aimed to conduct an incidence study in which physical examination methods were confirmed by ultrasonography in PLA, and to evaluate the relationship of absence with age, gender, laterality and dominant hand. METHODS: The study included 490 cases. They were initially tested to evaluated by physical examination using the Schaeffer's and Hiz-Ediz test for the assessment of the palmaris longus tendon. Additional ultrasonography was performed to confirm its absence in 129 wrists of 78 cases whose tendons could not be visualized or palpated. RESULTS: The incidence of tendon absence was 13% by physical examination methods. According to the final results when we added ultrasonography to physical examination methods, the incidence of unilateral, bilateral and overall absence of the palmaris longus were 5%, 9% and 11% respectively. There was no statistically significant difference between individuals with and without PLA in terms of gender, side, age and dominant hand (p = 0.796, p = 0.622, p = 0.397 and p = 0.187, respectively). However, bilateral PLA was statistically significantly higher than unilateral in both genders (p = 0.011). CONCLUSIONS: We think that agenesis should be proven accurately by ultrasonographic examination for the final result before any surgical procedure with palmaris longus tendon. Furthermore measuring the diameter of the palmaris longus tendon by preoperative ultrasonography can be useful for surgeons who plan a procedure that requires specific measurements.
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Músculo Esquelético/anomalías , Anomalías Musculoesqueléticas/epidemiología , Tendones/anomalías , Muñeca/anomalías , Adolescente , Adulto , Factores de Edad , Estudios de Factibilidad , Femenino , Hormonas Esteroides Gonadales , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Músculo Esquelético/diagnóstico por imagen , Músculo Esquelético/fisiopatología , Músculo Esquelético/cirugía , Anomalías Musculoesqueléticas/diagnóstico , Anomalías Musculoesqueléticas/fisiopatología , Anomalías Musculoesqueléticas/cirugía , Examen Físico/estadística & datos numéricos , Periodo Preoperatorio , Estudios Prospectivos , Factores de Riesgo , Tendones/diagnóstico por imagen , Tendones/fisiopatología , Tendones/cirugía , Ultrasonografía/estadística & datos numéricos , Muñeca/diagnóstico por imagen , Muñeca/fisiopatología , Muñeca/cirugía , Adulto JovenRESUMEN
PURPOSE: To describe the magnetic resonance imaging (MRI) features of the medial canthal tendon (MCT) insertion in a series of patients of the Centurion syndrome. METHODS: This was a prospective study carried out over a period of 1 year. All patients clinically diagnosed with Centurion syndrome underwent MRI with surface coils. The insertion of both the limbs (anterior and posterior) of the MCT was studied radio-logically and correlated clinically. RESULTS: We recruited six patients, of whom four were males. The anterior limb of the MCT was found to insert anterior to the anterior lacrimal crest in three, normally inserted in two, and thinned out and mal-developed in one. None of the patients with normal insertion had the classical beak sign or prominent nasal bridge. CONCLUSION: The anterior limb of the MCT may not always be inserted anteriorly in cases of Centurion syndrome; it can be normal or mal-developed. Disinsertion of the MCT, which is the most common procedure done for Centurion syndrome, might not be helpful in cases where the MCT is normally inserted or mal-developed.
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Anomalías del Ojo/diagnóstico por imagen , Párpados/diagnóstico por imagen , Enfermedades del Aparato Lagrimal/diagnóstico por imagen , Tendones/diagnóstico por imagen , Adolescente , Adulto , Niño , Párpados/anomalías , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Estudios Prospectivos , Síndrome , Tendones/anomalías , Adulto JovenRESUMEN
Feingold syndrome 1 (FGLDS1) is an autosomal dominant malformation syndrome, characterized by skeletal anomalies, microcephaly, facial dysmorphism, gastrointestinal atresias and learning disabilities. Mutations in the MYCN gene are known to be the cause of this syndrome. Congenital absence of the flexor pollicis longus (CAFPL) tendon is a rare hand anomaly. Most cases are sporadic and no genetic variants have been described associated with this abnormality. We describe here a pedigree combining familial CAFPL tendon as a feature of FGLDS1. Molecular analyses of whole exome sequence data in five affected family members spanning three generations of this family revealed a novel mutation in the MYCN gene (c.1171C>T; p.Arg391Cys). Variants in MYCN have not been published in association with isolated or syndromic CAFPL tendon, nor has this been described as a skeletal feature of Feingold syndrome. This report expands on the clinical and molecular spectrum of MYCN-related disorders and highlights the importance of MYCN protein in normal human thumb and foramen development.
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Párpados/anomalías , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Deformidades Congénitas de las Extremidades/diagnóstico , Deformidades Congénitas de las Extremidades/genética , Microcefalia/diagnóstico , Microcefalia/genética , Mutación , Proteína Proto-Oncogénica N-Myc/genética , Tendones/anomalías , Pulgar/anomalías , Fístula Traqueoesofágica/diagnóstico , Fístula Traqueoesofágica/genética , Adulto , Anciano , Niño , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Modelos Moleculares , Proteína Proto-Oncogénica N-Myc/química , Linaje , Fenotipo , Relación Estructura-Actividad , Secuenciación del ExomaRESUMEN
INTRODUCTION: The proximal insertion beyond coracoid process of pectoralis minor is considered as hidden culprit of rotator cuff disorders. The ectopic insertion is also associated with thoracic outlet syndrome. The current review was conducted to provide a comprehensive evidence-based assessment of the anatomical characteristics of ectopic insertion of pectoralis minor. MATERIALS AND METHODS: A through systematic search was conducted on the major electronic database, PubMed, EMBASE, Google Scholar and Journals of Anatomy, orthopedics, plastic surgery, sports medicine. The primary outcome was to measure the prevalence of ectopic insertion of pectoralis minor tendons. The data extraction was conducted for pooled estimation and metanalysis. RESULTS: A total of 25 studies were included for systematic review. The overall pooled estimate of ectopic insertion of Pectoralis Minor was 19.27% (95% CI 15-24%). The prevalence rate in dissected specimen was 21% (CI 15-28%) and in arthroscopic evaluation was 22% (95% CI 5-59%) which was marginally higher with wide confidence interval due small sample size. The prevalence rate in MRI and USG were 15 and 12%, because MRI and USG have almost similar sensitivity in the detection of anomalous insertion of Pectoralis Minor. The distribution of subtypes of anomalous or ectopic insertion based on Le Double classification was 34% for type I, 42 and 9% for Type III. The incidence of ectopic insertion of pectoralis minor was highest in Japanese population. The female and left side have slightly higher incidence at insignificant level. CONCLUSION: The preoperative MRI or at least USG evaluation of shoulder joint must be conducted for appropriate surgical planning, because the prevalence of ectopic insertion is around 20%. The preoperative detection of anomalous insertion of pectoralis minor can be crucial in minimizing the incidences of iatrogenic injuries of tendon or post-operative complications.
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Apófisis Coracoides/anomalías , Músculos Pectorales/anomalías , Lesiones del Manguito de los Rotadores/etiología , Tendones/anomalías , Apófisis Coracoides/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Músculos Pectorales/diagnóstico por imagen , Prevalencia , Tendones/diagnóstico por imagen , UltrasonografíaRESUMEN
RATIONALE: Repair of soft tissue defects on the dorsum of the hand with accompanying tendon defects is a challenging problem in clinical practice. PATIENT CONCERNS: Here, we describe the case of a 3-year-old boy with a 1-week old soft tissue injury with infection due to a soft tissue defect on the dorsum of his right hand, and further describe its treatment. DIAGNOSIS: A diagnosis of a soft tissue defect of the dorsum with extensor tendon defects in the fore, middle, ring, and little fingers of the right hand was made. INTERVENTIONS: The defects were repaired using a dorsal foot flap combined with the extensor digitorum brevis tendon, under spinal anesthesia, and a small dose of the sedative phenobarbital (Lumina) was administered via pump injection after the surgery. OUTCOMES: The patient was followed-up for 6 months. The shape of the dorsal hand flap recovered satisfactorily and the skin color was almost normal. Protective sensation was restored and the tendon graft functioned well in vivo. Satisfactory outcomes were achieved in the flexion and extension of each finger. LESSONS: This case study provides evidence that for soft tissue defects on the dorsum of the hand with tendon defects, 1-stage transfer of a dorsal foot flap with the extensor digitorum brevis tendon can be effective for recovery of appearance and extensor function. In case of infant patients, postoperative use of low-dose sedation can effectively reduce the risk of vascular crisis, thus promoting survival of the flap graft, and ensuring the success of the operation.
Asunto(s)
Anomalías Musculoesqueléticas/cirugía , Colgajos Quirúrgicos/trasplante , Transferencia Tendinosa/métodos , Tendones/cirugía , Cuidados Posteriores , Preescolar , Traumatismos de la Mano/complicaciones , Traumatismos de la Mano/cirugía , Humanos , Masculino , Anomalías Musculoesqueléticas/etiología , Infecciones de los Tejidos Blandos/microbiología , Traumatismos de los Tejidos Blandos/complicaciones , Tendones/anomalías , Resultado del TratamientoRESUMEN
RATIONALE: Typically, the tendon of the pectoralis major inserts into the crest of the greater tubercle of the humerus. However, anomalous insertion sites of the pectoralis major tendons have been noted. PATIENT CONCERNS: The cadaver of a 95-year-old Japanese man was selected from the bodies used for gross anatomy practice at the Tokai University School of Medicine in 2018. DIAGNOSIS: In this cadaver, the left side of the pectoralis major tendon appeared to insert at the crest of the greater tubercle and lesser tubercle of the humerus, forming a tunnel measuring 2.5âcm in total length. INTERVENTION: We removed the fat and skin around the shoulder joint and upper extremity for observational purposes and carefully examined the structures during gross anatomy. OUTCOMES: The medial side of the insertion of the pectoralis major tendon was not into the humerus but had combined with the tendon of the latissimus dorsi, which then loosely inserted into the humerus. As the roof and both walls comprised the tendon of the pectoralis major and the floor was formed by the tendon of the latissimus dorsi and humerus, the structure formed a tunnel. LESSONS: This study is important for orthopedic and rehabilitation physicians in treating diseases of the long head of the biceps brachii tendon. As part of management, the condition of the tendon of the pectoralis major should be confirmed using magnetic resonance imaging or echocardiography.