Analysis of SALL1 gene variant in a boy with Townes-Brocks syndrome without anal atresia / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child presented with renal failure and multi-cystic dysplastic kidney without anal atresia.@*METHODS@#Peripheral blood sample of the child and his parents were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing.@*RESULTS@#The 40-day-old infant had presented with vomiting brown matter in a 7 days neonate and was transferred for kidney failure. Clinical examination has discovered renal failure, polycystic renal dysplasia, congenital hypothyroidism, bilateral thumb polydactyly, sensorineural hearing loss and preauricular dermatophyte. Genetic testing revealed that he has harbored a previously unreported c.824delT, p.L275Yfs*10 frameshift variant of SALL1 gene, which was confirmed by Sanger sequencing as de novo.@*CONCLUSION@#The patient was diagnosed with Townes-Brocks syndrome due to the novel de novo variant of SALL1 gene. Townes-Brocks syndrome without anal atresia is rare. Above finding has also enriched the mutational spectrum of the SALL1 gene.

Pulgarización del índice en el tratamiento de la hipoplasia de pulgar: técnica quirúrgica / Index finger pollicization in the treatment of thumb hypoplasia: surgical technique

La pulgarización del dedo índice permite reconstruir la pinza de la mano. Fue ampliamente realizada para una reconstrucción de una pérdida de pulgar en condiciones de trauma. Sin embargo, hoy por hoy, es la técnica de elección para las hipoplasias congénitas de pulgar. En los niños permite crear una pinza, especialmente para objetos grandes y entrega una apariencia más normal de la mano. Es una técnica demandante, pero con pasos que están bien definidos y perfeccionados, que al ser realizados de forma cuidadosa, reducen al mínimo sus complicaciones.

The pollicization of the index finger allows reconstructing the hand's ability to pinch. It has been broadly used to address traumatic loss of the thumb. However today it is the procedure of choice for severe congenital thumb hypoplasia. It allows children to pinch, particularly large objects, it also gives the hand a more normal appearance. It is a demanding procedure, with a series of technical steps that are well defined and perfected, such that if they are performed in a careful way, complications are minimized.

Tratamiento quirúrgico de las deformidades en Boutonniere y cuello de cisne del pulgar en la artritis reumatoidea / Traitement chirurgical des déformations du pouce en boutonnière et en col de cygne dans l'arthrite rhumatoïde / Surgical Treatment of Boutonniere and Swan-Neck Deformities in Rheumatoid Arthritis Thumb

Introducción: la artritis reumatoidea es una enfermedad sistémica, en la que son comunes las deformidades articulares, estas se pueden observar en el pulgar donde las de mayor frecuencia son las de Boutonniere y en cuello de cisne. Objetivo: el objetivo principal fue evaluar los resultados de la aplicación de las técnicas quirúrgicas en estas deformidades. Método: se realizó un estudio longitudinal prospectivo de intervención. Se trataron un total de 20 pacientes con este diagnóstico, atendidos en el Servicio de Miembro Superior Minifijación Externa y Microcirugía del Complejo Científico Ortopédico Internacional Frank País en el período comprendido desde enero 2011 a diciembre 2012. La evaluación de los pacientes se realizó según la escala confeccionada para este grupo particular en estudio. Resultados: se obtuvieron resultados excelentes en el 10 por ciento, buenos en el 75 por ciento y regulares en el 15 por ciento de los casos. Conclusiones: las técnicas quirúrgicas empleadas en el tratamiento de esta afección mostraron resultados alentadores(AU)

Introduction: Rheumatoid arthritis is a systemic disease, in which joint deformities are common; these deformities are observed in the thumb where the most frequent are Boutonniere and swan-neck deformities. Objective: Assess the results of the application of surgical techniques in these deformities. Method: A longitudinal prospective intervention study was conducted at Frank País International Orthopedic Scientific Complex from January 2011 to December 2012. Twenty patients with this diagnosis were treated in the Upper Limb Service for External Miniaturization and Microsurgery. The evaluation of the patients was performed according to the scale prepared for this particular study group. Results: 10 of the cases obtained excellent results, 75 percent obtained good results and 15 percent had moderate results. Conclusions: The surgical techniques used in the treatment of this condition showed encouraging results(AU)

Introduction: L'arthrite rhumatoïde est une maladie systémique caractérisée par des atteintes articulaires, surtout au niveau du pouce, telles que les déformations en boutonnière et en col de cygne. Objectif: Évaluer les résultats de l'application des techniques chirurgicales dans le traitement de ces déformations. Méthodes: Une étude longitudinale prospective interventionnelle a été réalisée. Un total de vingt patients, diagnostiqués d'arthrite rhumatoïde, ont été traités au Service d'orthopédie de membres supérieurs, mini-fixation externe et microchirurgie, au Complexe scientifique international d'orthopédie Frank Pais, dans la période comprise entre janvier 2011 et décembre 2012. Les patients de ce groupe ont été évalués selon une échelle élaborée pour cette étude. Résultats: On a obtenu des résultats excellents (10 pourcent), bons (75 pourcent), et passables (15 pourcent). Conclusions: Les techniques chirurgicales utilisées dans le traitement de cette affection ont montré des résultats encourageants(AU)

Síndrome de Klippel-Feil con fistula traqueoesofagica, pulgar bifido y angiolipoma cerebral / Klippel-Feil syndrome with tracheoesophageal fistula, bifid thumb and cerebral angiolipoma

El síndrome de Klippel-Feil es una malformación congénita de la charnela cráneo-cervical compleja que involucra vértebras y visceras, caracterizada por la tríada clásica de cuello corto, limitación de movimientos de la cabeza por la fusión de vértebras cervicales e implantación baja del cabello en la región occipital. Se presenta por falla de segmentación en el esqueleto axial del embrión. Su incidencia se estima en 1/40 000-42 000nacimientos y predomina en el sexo femenino. El objetivo del presente trabajo es describir el cuadro clínico de un paciente con síndrome de Klippel-Feil y múltiples malformaciones asociadas, entre ellas, fístula traqueoesofágica, pulgar bífido y lipomas/angiolipomas intracraneales, las cuales, hasta ahora, no han sido descritas en el síndrome, por lo que se considera un hallazgo excepcional.

The Klippel-Feil syndrome is a congenital malformation of the skull flap involving complex cervical vertebrae and organs, characterized by a classic triad: short neck, limitation of movement of the head due to cervical spine fusion and low hairline in occipital region. It results from an error in the axial skeleton segmentation of the embryo; its incidence is estimated at 1/40,000-42,000 births and predominates in females. The aim of this paper is to describe the clinical picture of a patient with Klippel-Feil syndrome and multiple malformations, including tracheoesophageal fistula, bifid thumb and intracranial lipomas/angiolipomas,that have not been previously described in the syndrome, so it is considered an exceptional finding.

Apertura del primer espacio en pacientes con artrogriposis múltiple congénita y pulgar aducto con técnica de colgajo dorsorradial del índice / Opening of the first web space in patients with multiple congenital arthrogryposis and adducted thumb with a dorsoradial index finger flap

Introducción: La artrogriposis múltiple congénita es un síndrome progresivo caracterizado por articulaciones deformadas y rígidas, atrofia o ausencia muscular, contractura y engrosamiento del tejido articular capsular y periarticular y estado psíquico normal. Material y métodos: Se realizó un estudio retrospectivo de carácter descriptivo, con un nivel III de evidencia, sobre el manejo quirúrgico que recibieron pacientes con artrogriposis múltiple congénita y pulgar aducto congénito, en un período entre enero de 2005 y diciembre de 2010. Se realizaron 27 aperturas con técnica de colgajo dorso radial de índice, en 16 pacientes. En 80% de los pacientes se inició con la mano dominante, fueron nueve pacientes de sexo masculino y siete de sexo femenino, las manos operadas fueron 15 derechas y 12 izquierdas. Resultados: El diseño del colgajo permite un mejor avance y profundización del espacio y una mejoría cosmética. El ángulo intermetacarpiano primero y segundo preoperatorio fue en promedio de 20.5º, siendo el mínimo de 14º y el máximo de 27º. El promedio del ángulo intermetacarpiano primero y segundo postoperatorio fue de 50º, siendo el mínimo de 36º y el máximo de 65º, esto se observó en la clínica con una extensión activa de los pulgares así como una buena oposición del pulgar. Conclusiones: El diseño del colgajo permite un mejor avance y profundización del espacio, con un mejor balance entre los flexores y extensores, todos los pacientes tuvieron una mejor función de la extremidad y una mejoría cosmética.

Introduction: Arthrogryposis multiplex congenita is a progressive syndrome characterized by deformed and stiff joints, atrophy or absence of muscles, contracture and thickening of the capsular articular and periarticular tissue, and normal psychic status. Material and methods: A retrospective, descriptive, evidence level III study was conducted on the surgical management of patients with Arthrogryposis multiplex congenita and congenital adducted thumb between January 2005 and December 2010. Twenty-seven opening procedures were performed in 16 patients with a dorsoradial index finger flap technique. In 80% of patients the dominant hand was operated first; patients included nine males and seven females; the operated hands included 15 right and 12 left hands. Results: Flap design permits better advancement and space deepening, and cosmetic improvement. The mean preoperative first and second intermetacarpal angle was 20.5º on average, with a minimum of 14º and a maximum of 27º. The mean postoperative first and second intermetacarpal angle was 50º, with a minimum of 36º and a maximum of 65º. This was observed at the clinic with active thumb extension as well as proper thumb apposition. Conclusions: Flap design permits better advancement and space deepening, with a better balance between flexors and extensors. All patients had better limb function and cosmetic improvement.

Congenital hypoplasia of first digital ray of hands as an isolated presentation in four subjects

Congenital hypoplasia of thumb is rare malformation which is less likely to appear as an isolated entity. Four independent subjects exhibiting various grades of underdeveloped first digital ray were recruited. The affected autopods had narrow palms, medial or valgus inclinations of index fingers and thenar weakness, while the postaxial digits were least affected. According to the classification of hypoplastic thumb by Blauth and Schneider-Sickert [1981], the phenotypes were concordant with types 3 and 4. In one of the subjects there was contralateral preaxial polydactyly. All cases were sporadic and nonsyndromic and parental consanguinity was witnessed in two individuals. Recurrent appearance of similar phenotypes may suggest genetic etiologies which should be elucidated with the help of high-throughput genetic methods

Yunis-varon syndrome: the first report of two Iranian cases

The Yunis-Varon syndrome represents a rare autosomal recessive syndrome of easy recognition characterized by defective growth of the cranial bone along with complete or partial absence of the clavicles [cleidocranial dysplasia], absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, growth retardation and poor outcome. The molecular genetic basis is unknown. Here, we report an 8 months old girl with Yunis-Varon syndrome, born to a consanguineously married, with normal parents. She had micrognathia, wide fontanels, prominent eyes, poor sucking, congenital heart diseases, asymmetric face, ambiguous genitalia, reduction anomaly in right hand including thumb, and hypo plastic distal phalanges of 3th fingers, and hypo plastic clavicles. She has glaucoma and lenses opacity. There is another similar case in her family. Karyotype is normal. She is the first Iranian known case of Yunis-Varon syndrome

Bilateral congenital absence of the abductor pollicis brevis muscle: a case report

Congenital absence of the abductor pollicis brevis is a very rare condition and is usually associated with other congenital anomalies. Here we report a case of bilateral congenital absence of the abductor pollicis brevis without any other abnormalities, which has not been previously reported. A 24-year-old Caucasian male patient presented to our clinic with flattening in the palmar region, pain and discomfort in writing, and weakness in both hands. USG and MRI revealed bilateral absence of the abductor pollicis brevis muscle. Bilateral congenital absence of the abductor pollicis brevis muscle requires no treatment due to satisfactory hand function, and results in cosmetic problems. Congenital absence of the abductor pollicis brevis muscle should be kept in mind in patients with flattening of the thenar eminences

Unusual topography of posterior antebrachial musculature in the first osseofibrous compartment of wrist: clinicomorphological appraisal / Topografía inusual de la musculatura antebraquial posterior en el primer compartimento osteofibroso de la muñeca: valoración clínico-morfológica

Anatomical variations of abductor pollicis longus and extensor pollicis brevis are important in clinical assessment of diseased and traumatized hand. The present case reports an unusual fusion of muscle bellies of abductor pollicis longus and extensor pollicis brevis with two separate tendons of insertion, the medial tendon inserted into the base of first metacarpal and the lateral tendon into the abductor pollicis brevis muscle. Knowledge of such anatomical variations is of utmost importance in the management of De Quervain's disease and reconstructive surgeries of hand.

Las variaciones anatómicas de los músculos abductor largo del pulgar y extensor corto del pulgar son importantes en la evaluación clínica de la mano enferma y traumatizada. El presente caso informa una inusual fusión de los vientres musculares de los Mm. abductor largo del pulgar y extensor corto del pulgar con dos tendones de inserción separados, el tendón medial se insertó en la base del primer metacarpiano y el tendón lateral en el músculo abductor corto del pulgar. El conocimiento de estas variaciones anatómicas es de importancia en el manejo de la enfermedad de De Quervain y cirugía reconstructiva de la mano.

[ case report of a Down syndrome associated with thumb duplication]

Some major orthopedics characteristics and abnormalities of Down syndrome [DS] include hypotonia and limbs abnormalities including the short and wide hands with shortened metacarpus and digits, hypoplasia of middle phalanx of the fifth finger and simian crease. We report an 8 year-old male case of DS associated with thumb duplication is presented to our Pediatrics Clinic. He was referred to our clinic for enuresis and encopresis and with left thumb duplication. To our knowledge, this is the first case of DS to be reported from Iran associated with thumb duplication

Thumb Duplication: Concepts and Techniques

Within the Oberg, Manske, Tonkin (OMT) classification, thumb duplications are a failure of formation and/or differentiation affecting the radial-ulnar axis of the hand plate. The Wassel description of seven types of thumb duplication provides a good structure from which an approach to management is based. The aim of surgical reconstruction is to obtain a stable, mobile thumb of adequate size and appropriate shape. The most common form of reconstruction is removal of the lesser digit and reconstruction of the dominant digit. Surgical techniques address the problems of deviation, instability and lack of size. The disadvantages of the Bilhaut-Cloquet procedure, these being joint stiffness and a nail ridge, may be lesser concerns when reconstruction of one digit will not create a satisfactory thumb of adequate mobility, stability, alignment and size. Complicated problems of triphalangism, triplication, ulnar dimelia and the rare circumstance in which neither of the duplicated thumbs may be adequately reconstructed present specific challenges which demand alternative techniques.

Thumb Duplication: Concepts and Techniques

Within the Oberg, Manske, Tonkin (OMT) classification, thumb duplications are a failure of formation and/or differentiation affecting the radial-ulnar axis of the hand plate. The Wassel description of seven types of thumb duplication provides a good structure from which an approach to management is based. The aim of surgical reconstruction is to obtain a stable, mobile thumb of adequate size and appropriate shape. The most common form of reconstruction is removal of the lesser digit and reconstruction of the dominant digit. Surgical techniques address the problems of deviation, instability and lack of size. The disadvantages of the Bilhaut-Cloquet procedure, these being joint stiffness and a nail ridge, may be lesser concerns when reconstruction of one digit will not create a satisfactory thumb of adequate mobility, stability, alignment and size. Complicated problems of triphalangism, triplication, ulnar dimelia and the rare circumstance in which neither of the duplicated thumbs may be adequately reconstructed present specific challenges which demand alternative techniques.

Pollicization: The Concept, Technical Details, and Outcome

Pollicization substitutes a functioning finger for a deficient thumb. The most indication is thumb hypoplasia with absence or instability of the carpometacarpal joint. However, there are additional causes that may negate thumb function, such as trauma, macrodactyly, multi-fingered hand, and a mirror hand. The technique of pollicization represents a consolidation of contributions from surgeons over the last 100 years. A meticulous stepwise approach from incision to closure is necessary to optimize outcome. Following pollicization, cortical plasticity and motor relearning play a pivotal role in function following pollicization with connections and adjacent sprouting from nearby cortical and/or subcortical territories. Occupational therapy is necessary to encourage large object acquisition followed by smaller objects and ultimately fine pinch. Pollicization is more reliable in patients with isolated thumb hypoplasia and a mobile index finger with robust extrinsic and intrinsic muscle-tendon units compared to and patients with radial forearm deficiencies and diminished index mobility.

Pollicization: The Concept, Technical Details, and Outcome

Pollicization substitutes a functioning finger for a deficient thumb. The most indication is thumb hypoplasia with absence or instability of the carpometacarpal joint. However, there are additional causes that may negate thumb function, such as trauma, macrodactyly, multi-fingered hand, and a mirror hand. The technique of pollicization represents a consolidation of contributions from surgeons over the last 100 years. A meticulous stepwise approach from incision to closure is necessary to optimize outcome. Following pollicization, cortical plasticity and motor relearning play a pivotal role in function following pollicization with connections and adjacent sprouting from nearby cortical and/or subcortical territories. Occupational therapy is necessary to encourage large object acquisition followed by smaller objects and ultimately fine pinch. Pollicization is more reliable in patients with isolated thumb hypoplasia and a mobile index finger with robust extrinsic and intrinsic muscle-tendon units compared to and patients with radial forearm deficiencies and diminished index mobility.

Superficial portion of abductor pollicis brevis muscle, morphological study and literature review: case report / Fascículo superficial del músculo abductor corto del pulgar, estudio morfológico y revisión de la literatura. reporte de caso

Abductor pollicis brevis muscle (APB) belongs to the foreground of the subfascial muscle thenar region, which is of great importance in the movement of the thumb on its two-joint arrangement. In this article, we report the presence of a superficial portion of the APB muscle and its relationship and discuss the available literature and the clinical implications of the presence of this variation.

El músculo abductor corto del pulgar (ACP) pertenece al primer plano muscular subfascial de la región tenar de gran importancia en los movimientos del pulgar por su disposición biarticular. En el presente artículo reportamos la presencia de un fascículo superficial del músculo ACP y sus relaciones, se analiza la literatura disponible y se discuten las implicancias clínicas de la presencia de esta variación.

Antley-Bixler syndrome: a case report and result of radiohumeral synostosis resection

Antley-Bixler syndrome [ABS] is a rare congenital disorder with multiple skeletal and cartilaginous anomalies that demand orthopedic management. In this report we address the diagnostic features and associated malformations of this syndrome and describe the functional outcome of resection of radio humeral synostosis in a 9 month old girl with Antley-Bixler Syndrome

Holt-Oram syndrome with double outlet right ventricle with valvular and subvalvular pulmonary stenosis

The Holt-Oram syndrome is an autosomal dominant condition characterized by skeletal abnormalities that are frequently accompanied by congenital cardiac defects, most commonly an atrial septal defect. We report a rare case of sporadic Holt-Oram syndrome with double outlet right ventricle [DORV], valvular and subvalvular pulmonary stenosis, persistent left superior vena cava draining to the left atrium, and an ectopic right kidney

Multiple tendons of abductor pollicis longus muscle: a cadaveric study with clinical implications.

Abductor pollicis longus (APL) muscle is known to exhibit numerous variations. Variations in the number of tendons of APL muscle may be asymptomatic and are often incidental findings. The present case report, detected in a 42 year male cadaver, describes the APL muscle having three tendons. The presence of accessory tendons may be important in De Quervain's stenosing tendovaginitis. Anatomical knowledge of such variations may be clinically important for surgeons performing reconstructive hand surgeries in the dorsolateral region of the hand. In a wider perspective, variations in the number of tendons of APL may also be important for anthropological correlation and academic studies.

Nager's acrofacial dysostosis with hypertrophic cardiomyopathy

Nager syndrome is a rare condition associated with craniofacial malformations such as, micrognathia, zygomatic hypoplasia, external ear malformations, and preaxial limb deformities. This report features a case of Nager syndrome occurring in a one-year-old boy showing microretrognathia, thumb hypoplasia, brachydactyly, hexadactyly, and hypertrophic cardiomyopathy, characteristics not usually encountered in published cases