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1.
Rev. cuba. ortop. traumatol ; 36(3)sept. 2022. ilus
Article in Spanish | LILACS, CUMED | ID: biblio-1441773

ABSTRACT

Introducción: La hemimelia tibial o hemimelia paraxial longitudinal tibial, es una deficiencia congénita de la tibia. Esta deficiencia de los miembros inferiores longitudinal tibial, es muy rara y su frecuencia está en el orden de 1: 1 000 000 de niños nacidos vivos. Objetivo: Presentar un caso de hemimelia tibial diagnosticado por medio del cuadro clínico y radiografías y tratado quirúrgicamente. Presentación del caso: Paciente masculino de dos horas de nacido, atendido por presentar malformación congénita a nivel de la pierna derecha que se presentaba acortada con una prominencia dura a nivel proximal y el pie con deformidad marcada en supinación, aducción y rotación interna. Se realizó examen físico exhaustivo de la extremidad afecta y se constató el acortamiento evidente de la misma. Se indicó radiografía anteroposterior y lateral de la pierna y se observó que el segmento proximal de la tibia y el peroné estaban bien, pero con implantación alta, por lo que se diagnosticó una hemimelia tibial tipo II de Jones. Luego del alta el niño recibió seguimiento por consulta de Genética y el servicio de Ortopedia donde se decidió someterlo a un primer tiempo quirúrgico a los 6 meses de edad, mediante tibialización del peroné. A los 10 meses se realizó un segundo tiempo quirúrgico para centrar el astrágalo al peroné. Conclusiones: La hemimelia tibial se considera un diagnóstico poco frecuente en nuestro medio. No existe prevención conocida. El tratamiento es complejo y altamente especializado, y en algunos casos requiere la amputación temprana del miembro afectado para adaptar al paciente al uso de prótesis(AU)


Introduction: Tibial hemimelia or tibial longitudinal paraxial hemimelia is a congenital deficiency of the tibia. This tibial longitudinal lower limb deficiency is very rare and its frequency is in the order of 1: 1,000,000 live births. Objective: To report a case of tibial hemimelia diagnosed through the clinical condition and radiographs and treated surgically. Case report: We report the case of a two-hour-old male patient, treated for a congenital malformation at the level of the right leg that was shortened with a hard prominence at the proximal level and the foot with marked deformity in supination, adduction and internal rotation. An exhaustive physical examination of the affected limb was carried out and its evident shortening was confirmed. Anteroposterior and lateral X-rays of the leg were indicated and it revealed that the proximal segment of the tibia and fibula were fine, but with high implantation, for which a Jones type II tibial hemimelia was diagnosed. After discharge, the child was followed up by the Genetics consultation and the Orthopedics service, where it was decided to undergo a first stage surgery at 6 months of age, by means of tibialization of the fibula. At 10 months, a second surgical time was performed to center the talus to the fibula. Conclusions: Tibial hemimelia is considered a rare diagnosis in our setting. There is no known prevention. Treatment is complex and highly specialized, and in some cases requires early amputation of the affected limb to adapt the patient to the use of a prosthesis(AU)


Subject(s)
Humans , Male , Infant, Newborn , Tibia/abnormalities , Foot Deformities, Congenital/genetics , Ectromelia/surgery , Ectromelia/diagnostic imaging , Leg/abnormalities , Natural Childbirth/methods
2.
Int. j. morphol ; 39(4): 1054-1057, ago. 2021. ilus
Article in English | LILACS | ID: biblio-1385454

ABSTRACT

SUMMARY: Accessory and anomalous muscles are common in humans, although their unique morphologic characteristics can make accurate identification difficult. In this case report, we attempt to identify an anomalous accessory muscle of the posterior compartment of the leg [Compartimentum posterius cruris] detected during cadaveric dissection and discuss its clinical significance. The muscle was found on the right lower limb of an 81-year-old female cadaver and extended from the distal femur to attach to the gastrocnemius muscle at the point where the medial and lateral heads fuse. At its origin, the muscle was found lateral to the popliteal vessels and crossed posterior to these vessels and tibial nerve. It displayed characteristics similar to both an accessory plantaris muscle and gastrocnemius tertius, thus making its ultimate identification difficult. Though the muscle displayed a morphologically similar appearance to the plantaris, we suggest that its common insertion with the gastrocnemius best identifies it as a gastrocnemius tertius. In addition, due to its relationship with the popliteal neurovasculature, it is possible that this muscle could have resulted in neurovascular entrapment although it is unknown whether or not this cadaver exhibited symptoms.


RESUMEN: Los músculos accesorios y anómalos son comunes en los seres humanos, aunque sus características morfológicas pueden dificultar la identificación precisa. En este reporte de caso, intentamos identificar un músculo accesorio anómalo del compartimento posterior de la pierna [Compartimentum posterius cruris] detectado durante la disección cadavérica y discutir su importancia clínica. El músculo fue encontrado en el miembro inferior derecho de una mujer de 81 años de edad y se extendía desde la parte distal del fémur para unirse al músculo gastrocnemio en la fusión de sus cabezas medial y lateral. En su origen, el músculo se encontraba lateral a los vasos poplíteos y cruzaba posteriormente a estos vasos y al nervio tibial, presentando características similares tanto al músculo plantar accesorio como al gastrocnemio tercero, lo que dificultaba su identificación final. Similar al músculo plantar, sugerimos que debido a su inserción común con el gastrocnemio lo identifica mejor como un músculo gastrocnemio tercero. Además, debido a su relación con la neurovasculatura poplítea, es posible que este músculo haya dado lugar a un síndrome de compresión neurovascular aunque se desconoce si este individuó presentó síntomas o no en vivo.


Subject(s)
Humans , Female , Aged, 80 and over , Muscle, Skeletal/abnormalities , Leg/abnormalities , Cadaver , Muscle, Skeletal/anatomy & histology , Leg/anatomy & histology
3.
Actual. osteol ; 15(3): 192-204, Sept-Dic. 2019. graf, ilus, tab
Article in English | LILACS | ID: biblio-1104327

ABSTRACT

Blocking of the growth plate (GP) using plates with screws (tension band plating) is a modern method used to correct deformities and moderate leg length discrepancy in growing children. Determining the duration of temporary bilateral blocking without the occurrence of irreversible changes of GP is of paramount importance important. Methods: Two-month-old Californian breed male rabbits (n=30) were exposed to bilateral blocking of the distal GP of the right femur locking plates with screws for 3, 5, and 7 weeks. The fixators were removed after 5 and 7 weeks in 18 rabbits and 3 weeks after that, animals were sacri!ced. The contralateral limb was used as a control. Histological, histomorphometric, and X-ray analyses were performed. Results: During GP blocking, its height gradually decreased. This decreased was more pronounced after 7 weeks. Destructive changes progressed with an increase in the blocking duration. Three weeks after discontinuation of the bilateral blocking that lasted 5 weeks, the height of the GP signi!cantly increased 1.2 times on the lateral side and 1.9 times on the medial side (p<0.001) compared to the control. When blocking was discontinued after 7 weeks, the structure of the GP was partially restored after 3 weeks, the height of GP signi!cantly increased 1.2 times on the lateral side, and 1.07 times on the medial side (p<0.01) compared to the control. Conclusion: Restoration of the structuralfunctional features of the GP after the removal of the plates depends on the duration of temporary bilateral blocking, which must be taken into account in the clinical setting. (AU)


El bloqueo de la placa de crecimiento (PC) utilizando placas con tornillos (banda de tensión) es un método moderno utilizado para corregir deformidades y alteraciones moderadas en la longitud de las piernas en niños en crecimiento. Es de suma importancia determinar cuál debe ser la duración del bloqueo bilateral temporal sin que ocurran cambios irreversibles en la PC. Métodos: Conejos machos de raza californiana de dos meses de edad (n = 30) fueron expuestos al bloqueo bilateral de la PC distal colocando placas del fémur derecho con tornillos durante 3, 5 y 7 semanas. Los fijadores fueron retirados después de 5 y 7 semanas en 18 de los conejos, y 3 semanas después los animales fueron sacrificados. La extremidad contralateral se utilizó como control. Se realizaron análisis histológicos, histomorfométricos y de rayos X. Resultados: Durante el bloqueo de la PC, su altura disminuyó gradualmente. Esta disminución fue más pronunciada después de 7 semanas. Los cambios destructivos se incrementaron a medida aumentaba la duración del bloqueo. Tres semanas después de la interrupción del bloqueo bilateral que duró 5 semanas, la altura de la PC aumentó significativamente 1.2 veces en el lado lateral y 1.9 veces en el lado medial (p <0.001) en comparación con el control. Conclusión: La restauración de las características funcionales estructurales de la PC después de la extracción de las placas depende de la duración del bloqueo bilateral temporal, lo que debería tenerse en cuenta en el tratamiento clínico de estas alteraciones. (AU)


Subject(s)
Humans , Animals , Child , Rabbits , Limb Deformities, Congenital/therapy , Growth Plate/growth & development , Phenobarbital/administration & dosage , Rabbits/surgery , Xylazine/administration & dosage , Bone Plates , Cefazolin/administration & dosage , Child Development , Harm Reduction , Femur/cytology , Femur/growth & development , Femur/diagnostic imaging , Fixatives/analysis , Growth Plate/abnormalities , Ketamine/administration & dosage , Leg/abnormalities
4.
Acta ortop. mex ; 31(3): 141-144, may.-jun. 2017. graf
Article in Spanish | LILACS | ID: biblio-886553

ABSTRACT

Resumen: Objetivo: Evaluar los resultados funcionales y radiográficos de los pacientes adolescentes con deformidades angulares de los miembros pélvicos tratados con sistema de osteotomía en cuña abierta. Material y métodos: Estudio observacional, prospectivo, analítico y transversal de los pacientes con diagnóstico de deformidad angular de los miembros pélvicos tratados con sistema de osteotomía en cuña abierta. Se valoraron mediante radiografía el ángulo femorotibial, el ángulo de desviación del eje mecánico (MAD), la discrepancia de miembros inferiores y los grados de centro de rotación de la deformidad (CORA) pre- y post­quirúrgico. Se realizó una encuesta telefónica de la escala funcional postquirúrgica IKDC 2000. Resultados: Se valoraron 28 pacientes, 21 femeninos y siete masculinos, con un promedio de edad de intervención quirúrgica de 15.3 años. Sus diagnósticos: genu valgo idiopático, 10 casos; enfermedad de Blount, cuatro; tumoraciones benignas, tres; raquitismo hipofosfatémico, tres y otros como secuelas de artritis séptica de rodilla, hipoplasia femoral y secuelas de fractura. Fueron un total de 29 osteotomías: 17 de tibia y 12 de fémur; 17 osteotomías presentaban desviación lateral del eje mecánico, 11 desviación medial, con una media de ángulo femorotibial de 17 y 7.35 (p < 0.03), respectivamente; la discrepancia inicial promedio tuvo una mejoría de 0.5 cm. El IKDC postquirúrgico en la evaluación subjetiva tuvo una media de 95.3 puntos. Conclusiones: La fijación de osteotomías con placas de cuña abierta es una opción con buenos resultados tanto clínicos como radiográficos.


Abstract: Objective: The aim of this study was to evaluate the functional and radiographic results of adolescent patients with angular deformities of the pelvic limbs treated with an open wedge osteotomy system. Material and methods: Observational, prospective, analytical and cross-sectional study of patients with angular deformity of the pelvic limbs treated with an open wedge osteotomy. We made a radiographic evaluation of the femorotibial angle, MAD angle, lower limb discrepancy, and pre- and postoperative degrees of the rotational center of deformity (CORA), as well as a telephone survey of the postoperative functional evaluation IKDC 2000. Results: It was a sample of 28 patients, 21 female and seven male, with a mean age of 15.3 years. Their diagnoses: idiopathic genu valgo, 10 cases; Blount disease, four; benign tumors (enchondromatosis and osteochondromatosis), three; hypophosphatemic rickets; three, among others, such as sequelae of septic arthritis of the knee, femoral hypoplasia, and fracture sequels. It was a total of 29 osteotomies, 17 of the tibia and 12 of the femur; 17 osteotomies presented deviation to lateral of the mechanical axis, and 11, medial deviation, with a mean femorotibial angle of 17 and 7.35 (p < 0.03), respectively. The mean initial discrepancy had an improvement of 0.5 cm. Postoperative IKDC in the subjective evaluation had an average of 95.3 points. Conclusions: The fixation of osteotomies with open wedge plates is an option with good clinical and radiographic results.


Subject(s)
Humans , Male , Female , Adolescent , Osteotomy/methods , Leg/abnormalities , Leg/surgery , Tibia , Radiography , Cross-Sectional Studies , Prospective Studies , Knee Joint
5.
Int. j. morphol ; 35(1): 34-36, Mar. 2017. ilus
Article in English | LILACS | ID: biblio-840928

ABSTRACT

We present the case of a left medial gastrocnemius and plantar muscle agenesis in a 58-years old male cadaveric specimen from the Anatomy Laboratory at the Universidad Industrial de Santander (Bucaramanga-Colombia). These unusual muscle absences and associated functional alterations, enrich anatomical knowledge and become important by the time the affected individual may need a reconstructive procedure.


Se presenta un caso de agenesia de los músculos gastrocnemio medial y plantar izquierdos en un espécimen cadavérico masculino de 58 años, del laboratorio de anatomía de la Universidad Industrial de Santander (Bucaramanga- Colombia). Estas raras ausencias musculares enriquecen el conocimiento anatómico con sus alteraciones funcionales concomitantes y permiten postular los posibles procedimientos reconstructivos requeridos en los individuos que las presentan.


Subject(s)
Humans , Male , Middle Aged , Knee/abnormalities , Leg/abnormalities , Muscle, Skeletal/abnormalities , Cadaver
6.
Rev. bras. cir. plást ; 29(4): 567-574, 2014. tab
Article in English, Portuguese | LILACS | ID: biblio-837

ABSTRACT

INTRODUÇÃO: A úlcera venosa assume grande importância na vida dos pacientes, pois a ocorrência de deformidade causada por este tipo de ferida pode gerar consequência advensas as causais inclui distúrbios psicossocial. Avaliar bem-estar subjetivo e depressão em pessoas idosas com úlcera venosa. MÉTODOS: Estudo clínico, primário, descritivo, analítico e multicêntrico. Participaram 55 indivíduos idosos com úlcera venosa, atendidos no Núcleo de Assistência e Ensino em Enfermagem do Hospital das Clínicas Samuel Libânio, no Ambulatório São João da Universidade do Vale do Sapucaí e nas Unidades Básicas de Saúde da cidade de Pouso Alegre. Foram incluídos pacientes com idade acima de 60 anos, ambos os sexos, índice tornozelo/braço entre 0,8 e 1,0. Os dados foram coletados no período compreendido entre dezembro de 2012 a maio de 2013, após aprovação Comitê de Ética em Pesquisa da Faculdade de Ciências da Saúde Dr. José Antônio Garcia Coutinho sob parecer 3.090.46. Os instrumentos utilizados foram: dado sócio demográfico, Escala de Depressão Geriátrica em versão reduzida de Yesavage e Escala de Bem-estar Subjetivo. Para análise estatística foi realizado os testes: Qui-Quadrado, t de Student. RESULTADOS: A Maioria, dos indivíduos, era do sexo feminino, 22(40%) tinham entre 60 e 65 anos, 27(49,10%) entre 66 e 70 anos, tinham de 1 a 2 salários mínimos e viúvo. Foram identificados 23 (41,82%) idosos com úlcera venosa nível da depressão leve ou moderada, e 26(47,28%) depressão severa. Relacionado à Escala Bem-estar Subjetivo a maioria dos participantes do estudo apresentaram alteração nos domínios: 43(78,20%), satisfação com a vida, e 40 (72,70%). CONCLUSÃO: Através deste estudo concluímos que os indivíduos que participaram da pesquisa apresentam depressão entre leve a severa e queda na qualidade de vida. Sentem-se infelizes, e insatisfeitos com a vida.


INTRODUCTION: Venous ulcers play an important role in patients' lives, as the deformities caused by this type of wound can lead to various adverse effects, including psychosocial disorders. OBJECTIVE: To evaluate subjective wellness and depression in elderly patients with venous ulcers. METHODS: This is a primary, descriptive, analytical, and multicenter clinical study involving 55 elderly patients with venous ulcers, undergoing treatment at the Nursing Assistance and Training Center of Clínicas Samuel Libânio Hospital, at the São João Outpatient Clinic of the University of Vale do Sapucaí and at the Primary Healthcare Units of Pouso Alegre city. The study included male and female patients, aged 360 years, and with an ankle-brachial index between 0.8 and 1.0. Data were collected between December 2012 and May 2013, after approval by the research ethics committee of the Faculty of Health Sciences Dr. José Antônio Garcia Coutinho, under recommendation 3.090.46. Sociodemographic data, Yesevage's reduced version of the Geriatric Depression Scale, and the Subjective Wellness Scale were used. Statistical analyses were carried out with the chi-square and Student's t tests. RESULTS: Most of the study participants were female; 22 (40%) of the patients were aged 60-65 years and 27 (49.10%) were aged 66-70 years. Their income ranged between 1 and 2 minimum wages, and most of them are widowers. Twenty-three (41.82%) elderly patients with venous ulcers had mild to moderate depression levels, and 26 (47.28%) showed severe depression. In the Subjective Wellness Scale, most study participants revealed changes in items 43 (satisfaction with life; 78.20%) and 40 (72.70%). CONCLUSION: This study revealed that study participants had mild to severe depression and decreased quality of life.


Subject(s)
Humans , Male , Female , Middle Aged , Aged , History, 21st Century , Quality of Life , Varicose Ulcer , Varicose Veins , Wounds and Injuries , Aged , Multicenter Study , Evaluation Study , Depression , Clinical Study , Leg , Leg Ulcer , Mental Disorders , Varicose Ulcer/surgery , Varicose Ulcer/pathology , Varicose Veins/surgery , Varicose Veins/pathology , Wounds and Injuries/surgery , Wounds and Injuries/pathology , Depression/surgery , Depression/pathology , Leg/abnormalities , Leg/surgery , Leg Ulcer/surgery , Mental Disorders/surgery , Mental Disorders/pathology
7.
Int. j. morphol ; 30(3): 1061-1064, Sept. 2012. ilus
Article in English | LILACS | ID: lil-665525

ABSTRACT

The superficial muscle group of the posterior compartment of leg forms a powerful muscular mass in the calf. The two-headed gastrocnemius is the most superficial muscle of this group, and forms the proximal, most prominent part of the calf. Gastrocnemius muscle exhibits numerous variations in the origin and/or insertion. The present report describes the incidental occurrence of the third/accessory head of gastrocnemius muscle in the left lower limb. During routine educational dissection of a 54-year old American female cadaver in the Anatomy lab of the Medical University of the Americas, Nevis, West Indies, we found an unusual 10.8 cm long muscle in the left popliteal region, attached proximally to the lateral aspect of the popliteal surface of femur, and distally terminated as a tendon which was attached at the junction of the medial and lateral heads of gastrocnemius muscle. No such variation was found on the right side. This is described as a case of third / accessory head of gastrocnemius muscle...


El grupo muscular superficial del compartimento posterior de la pierna forma una poderosa masa muscular. El músculo gastrocnemio de dos cabezas es el más superficial de este grupo y forma la parte proximal, más prominente de la pantorrilla. El músculo gastrocnemio presenta numerosas variaciones en el origen y/o inserción. El informe describe la presencia de una tercera/accesoria cabeza del músculo gastrocnemio, encontrada. durante una disección de rutina en un cadáver de una mujer americana de 54 años, en el Laboratorio de Anatomía de la Medical University of the Americas, Nevis, West Indies. La variación muscular inusual medía 10,8 cm de longitud y se originaba en la región poplítea izquierda, proximalmente en la cara lateral de la superficie poplítea del fémur, y se insertaba en un tendón que se adhería a la unión de las cabezas medial y lateral del músculo gastrocnemio. La variación no se encontró en el lado derecho. Este hallazgo se describe como un caso de tercera/accesoria cabeza del músculo gastrocnemio...


Subject(s)
Humans , Female , Middle Aged , Muscle, Skeletal/anatomy & histology , Leg/anatomy & histology , Cadaver , Fascia , Muscle, Skeletal/abnormalities , Leg/abnormalities , Tendons
8.
Rev. bras. cir. plást ; 26(3): 518-524, July-Sept. 2011. ilus, tab
Article in English, Portuguese | LILACS | ID: lil-608214

ABSTRACT

BACKGROUND: Lower limb amyotrophy is a serious deformity that is often disabling and causes esthetic problems such as asymmetries and changes in the shape and contour of the legs. The present study evaluated the use of silicone implants for the correction of lower limb amyotrophy. METHODS: Women who underwent surgical correction of lower limb amyotrophy with silicone implants between 2002 and 2009 at the Plastic Surgery Service of Instituto Ivo Pitanguy at the 38th Nursing Service of Santa Casa da Misericórdia, Rio de Janeiro and at their associated services were retrospectively reviewed. RESULTS: Five cases were studied and the results were retrospectively assessed. Follow-up ranged from 3 months to 2 years after surgery until the last postoperative visit. In 4 of 5 patients, the desired result was obtained after a single surgical procedure, and no patient developed capsular contracture, compartment syndrome, circulatory disorders, neurological disorders, or infections. CONCLUSIONS: Calf augmentation in patients with lower limb amyotrophy did not correct the associated functional deficit, but resulted in a high level of satisfaction with regard to the esthetic improvement of the limb, thus improving the quality of life of these patients.


INTRODUÇÃO: As amiotrofias dos membros inferiores são deformidades por vezes incapacitantes, mas que trazem aos pacientes problemas estéticos, como assimetrias e alterações da forma e contorno das pernas. Este estudo teve como objetivo avaliar a aplicabilidade do uso de implantes de silicone para correção de amiotrofias de membros inferiores. MÉTODO: Estudo retrospectivo de pacientes, todas do sexo feminino, submetidas a correção cirúrgica de amiotrofia de pernas com a utilização de implantes de silicone, entre 2002 e 2009, no Serviço de Cirurgia Plástica do Instituto Ivo Pitanguy, na 38ª Enfermaria da Santa Casa da Misericórdia do Rio de Janeiro e em serviços associados. RESULTADOS: Foram analisados 5 casos. A maioria dos resultados foi avaliada de maneira retrospectiva. O tempo de acompanhamento variou de 3 meses a 2 anos, desde a cirurgia até a última consulta pós-operatória. Do total de pacientes, 4 apresentaram resultado desejado em apenas um procedimento cirúrgico e nenhuma paciente apresentou contratura capsular, síndrome compartimental, alterações circulatórias, alterações neurológicas ou infecção. CONCLUSÕES: O aumento das panturrilhas em pacientes portadoras de amiotrofias de membros inferiores não proporcionou modificações no tocante ao deficit funcional prévio. Todavia, essas pacientes, geralmente bastante castigadas pela doença de base, apresentam índice de satisfação muito elevado com a melhoria estética do membro, otimizando, dessa forma, a qualidade de vida dessas pacientes.


Subject(s)
Humans , Female , Adult , History, 21st Century , Prostheses and Implants , Surgery, Plastic , Muscular Atrophy , Retrospective Studies , Silicone Gels , Evaluation Study , Lower Extremity , Lower Extremity Deformities, Congenital , Leg , Prostheses and Implants/adverse effects , Prostheses and Implants/standards , Surgery, Plastic/methods , Muscular Atrophy/surgery , Muscular Atrophy/therapy , Silicone Gels/adverse effects , Silicone Gels/standards , Silicone Gels/therapeutic use , Lower Extremity/surgery , Lower Extremity Deformities, Congenital/surgery , Leg/abnormalities , Leg/surgery
9.
Journal of Korean Medical Science ; : 1378-1381, 2011.
Article in English | WPRIM | ID: wpr-127685

ABSTRACT

A bilateral gastrocnemius tertius muscle and a unilateral accessory soleus muscle were encountered during the routine educational dissection studies. The right gastrocnemius tertius muscle consisted of one belly, but the left one of two bellies. On the left side, the superficial belly of the gastrocnemius tertius muscle had its origin from an area just above the tendon of the plantaris muscle, the deep belly from the tendon of the plantaris muscle. The accessory soleus muscle originated from the posteromedial aspect of the tibia and soleal line of the tibia and inserted to the medial surface of the calcaneus. On the right side, the gastrocnemius tertius muscle had its origin from the lateral condyle of the femur, and inserted to the medial head of the gastrocnemius muscle. The co-existence of both gastrocnemius tertius and accessory soleus muscle has not, to our knowledge, been previously reported.


Subject(s)
Adult , Humans , Male , Abnormalities, Multiple , Leg/abnormalities , Muscle, Skeletal/abnormalities
10.
Indian J Hum Genet ; 2010 Jan; 16(1): 26-27
Article in English | IMSEAR | ID: sea-138892

ABSTRACT

This case report shows a genealogical study where a woman has limb hypertrophy and her son has an association of Sturge–Weber syndrome with Klippel–Trenaunay–Weber syndrome. The Sturge–Weber and Klippel–Trenaunay–Weber syndromes appear to be different manifestations of the same affliction. Familial aggregation exists and transmission may be almost imperceptible between generations. Identification of minor manifestations may prove to be a valuable contribution to genetic counseling of families and the prevention of new cases.


Subject(s)
Adult , Adolescent , Brazil/epidemiology , Female , Genealogy and Heraldry , Genetic Counseling , Humans , Hypertrophy , Klippel-Trenaunay-Weber Syndrome/diagnosis , Klippel-Trenaunay-Weber Syndrome/epidemiology , Klippel-Trenaunay-Weber Syndrome/genetics , Leg/abnormalities , Male , Mothers , Nuclear Family , Sturge-Weber Syndrome/diagnosis , Sturge-Weber Syndrome/epidemiology , Sturge-Weber Syndrome/genetics
11.
JPAD-Journal of Pakistan Association of Dermatologists. 2010; 20 (3): 189-190
in English | IMEMR | ID: emr-144911
13.
Revue Maghrebine de Pediatrie [La]. 2009; 19 (6): 321-325
in French | IMEMR | ID: emr-134329

ABSTRACT

Sirenomelia is a serious congenital deformity in which the legs are fused together, giving the appearance of a mermaid [of the Greek Mythology], Its prevalence has been estimated at about 1, 5 to 2 in 100 000 births. We report two cases of foetuses with Sirenomelia. The first case is that of a premature baby weighing 1050g. The second case is a premature baby resulting from a triple pregnancy and weighing 1450g. They presented a fused lower limb and absent kidneys, anus and external genitalia. They died rapidly. These two cases will allow us to debate the clinical signs, the aetiology and the prognosis of such congenital malformation as well as the difficulties of prenatal diagnosis


Subject(s)
Humans , Leg/abnormalities , Infant, Premature
14.
Article in English | IMSEAR | ID: sea-80565

ABSTRACT

Congenital extremity anomalies have many modes of presentation. Interruption of vascular supply with thrombophily is a rare cause of congenital extremity absence. Here it is presented a 7 mth old male with absence of the left lower extremity. Laboratory tests revealed Factor V Leiden and Prothrombin G20210A heterozygote mutation and that was as the cause of extremity absence. At the patients with congenital extremity absences, it is not imprudent to explore a possible thrombophilic mutation along with other known etiologic factors.


Subject(s)
Diseases in Twins , Factor V/genetics , Foot Deformities, Congenital/etiology , Humans , Infant , Leg/abnormalities , Male , Point Mutation , Thrombosis/complications
15.
Rev. Asoc. Argent. Ortop. Traumatol ; 72(1): 32-39, mar. 2007. ilus, tab
Article in Spanish | LILACS | ID: lil-465410

ABSTRACT

Introduccion: Las deformidades en valgo de los miembrosinferiores en niños y adolescentes son un motivo frecuente de consulta en la practica ortopedica. Tienden a considerarse propias de la evolucion regional con el crecimiento y por ello a ser subestimadas. Algunas constituyen una entidad patologica que requiere una minuciosa valoracion de magnitud y evolutividad y pueden ocasionar no solo alteraciones esteticas sino funcionales, por lo cual necesitan un tratamiento específico. Materiales y metodos: Se estudiaron 29 pacientes (58 rodillas) con genu valgo idiopatico tratados quirurgicamente antes de la finalizacion del crecimiento. Se realizo arresto epifisario femoral medial distal (AEFMD) basado en la tecnica de Blount. La indicacion se adopta según la presencia de dolor o dificultad para la marcha, razones esteticas-deformidad o como profilaxis de alteraciones secundarias en la edad adulta. Resultados: Basados en la ausencia de dolor de rodilla, mejoria de la deambulacion, ausencia de mialgias y correccion del deseje en valgo los resultados fueron excelentes y buenos en todos los casos.Conclusiones: El arresto epifisario femoral medial distales un metodo quirurgico adecuado para corregir deformidades en valgo en niños y adolescentes con cartilago de crecimiento permeable. Actua sobre el eje central del problema, es de facil realizacion, poco cruento, no requiere inmovilizacion y permite un pronto retorno a las tareas habituales.


Subject(s)
Child , Adolescent , Knee Joint/abnormalities , Joint Deformities, Acquired/surgery , Femur/surgery , Leg/abnormalities , Treatment Outcome
16.
Yonsei Medical Journal ; : 833-838, 2007.
Article in English | WPRIM | ID: wpr-175316

ABSTRACT

PURPOSE: Past classification for the treatment of idiopathic genu vara depended simply on the measurement of distance between the knees, without attention to the rotational profile of the lower extremity. We retrospectively analyzed anatomical causes of idiopathic genu vara. PATIENTS AND METHODS: Twenty eight patients with idiopathic genu vara were included in this study. All patients were surgically treated. To evaluate the angular deformity, a standing orthoroentgenogram was taken and the lateral distal femoral angle and the medial proximal tibial angle were measured. In order to assess any accompanying torsional deformity, both femoral anteversion and tibial external rotation were measured using computerized tomographic scans. A derotational osteotomy was performed at the femur or tibia to correct rotational deformity, and a correctional osteotomy was performed at the tibia to correct angular deformity. RESULTS: Satisfactory functional results were obtained in all cases. Genu vara was divided into 3 groups according to the nature of the deformity; group 1 (6 patients) with increased femoral anteversion, group 2 (10 patients) with proximal tibial varus deformity alone, and group 3 (12 patients) with proximal tibial varus deformity accompanied by increased external tibial rotation. CONCLUSION: The success seen in our cases highlights the importance of an accurate preoperative analysis that accounts for both rotational and angular deformities that may underlie idiopathic genu vara.


Subject(s)
Adolescent , Adult , Child , Female , Humans , Male , Leg/abnormalities , Lower Extremity Deformities, Congenital/classification , Retrospective Studies
17.
Article in English | IMSEAR | ID: sea-46702

ABSTRACT

A rare case of Klippel Trenaunay Weber Syndrome (KTWS) in a 13-year-old boy with lower limb asymmetry and lower motor lesion of left lower limb is presented along with a brief review of literature.


Subject(s)
Adolescent , Arteriovenous Malformations/diagnosis , Hemangioma/diagnosis , Humans , Klippel-Trenaunay-Weber Syndrome/diagnosis , Leg/abnormalities , Male , Pain , Shoes , Spinal Diseases/diagnosis
20.
Indian J Pediatr ; 2004 Mar; 71(3): 269-70
Article in English | IMSEAR | ID: sea-83066

ABSTRACT

Popliteal pterygium syndrome is a well defined complex that consists of popliteal pterygium, intercrural pterygium, various digital anomalies that include hypoplasia or agenesis of digits, syndactyly, valgus or varus deformities of the feet and oral anomalies such as cleft lip-palate. A baby with the typical anomalies as well as a few unusual features such as mongloid slant, hypertelorism, malformed alae nasi and elbow joint contractures is reported.


Subject(s)
Abnormalities, Multiple/diagnosis , Cleft Lip/diagnosis , Cleft Palate/diagnosis , Craniofacial Abnormalities/diagnosis , Female , Foot Deformities/diagnosis , Hand Deformities/diagnosis , Humans , Infant, Newborn , Leg/abnormalities , Syndrome
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