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1.
Rev. bras. ortop ; 57(4): 642-648, Jul.-Aug. 2022. tab, graf
Article in English | LILACS | ID: biblio-1394882

ABSTRACT

Abstract Objective Clinodactyly is a congenital hand deformity that is characterized by coronal angular deviation and may occur in thumbs or fingers. Surgical treatment is indicated for severe angulations. Among the described techniques, one of the options consists of bone alignment by wedge-shaped addition osteotomy of the anomalous phalanx. Such alignment maneuver creates a problem in skin cover, along with soft-tissue tension at the concave aspect of the deformity. Hence, some sort of skin flap is required for the adequate operative wound closure. We aim to demonstrate the aforementioned technique and to assess the results of bilobed flap in the treatment of hand clinodactyly. Methods Retrospective study conducted between January 2008 and January 2015. Five patients were included in the study, including nine operated digits. Surgical indication consisted of angular deviations ˃ 30o. Neither patients with thumb deformities nor those with deformities associated to syndromes were excluded from the study. We assessed the functional and cosmetic outcomes of the technique, as well as complications and the satisfaction rates of the family. Results All patients had satisfactory functional and cosmetic results, with a mean skin healing of 18.6 days. Among nine operated digits, only one of the patients presented vascular compromise at the distal portion of the first flap lobe, albeit without necrosis or the need for any additional procedure. Patients were followed up on a minimum of 12-month interval. No deformity recurred during the observation period. Conclusion Bilobed flap for the treatment of hand clinodactyly is a good option for skin cover after the osteotomy.


Resumo Objetivo A clinodactilia é uma deformidade congênita da mão, caracterizada por desvio angular coronal, podendo ocorrer em polegares ou dedos. O tratamento cirúrgico é indicado para angulações severas. Dentre as técnicas descritas, uma das opções consiste no alinhamento ósseo, através de osteotomia em cunha de adição da falange anômala. Essa manobra de alinhamento gera uma dificuldade de cobertura cutânea, juntamente com a tensão das partes moles no lado côncavo da deformidade. Sendo assim, algum tipo de retalho cutâneo é necessário para o fechamento adequado da ferida cirúrgica. Objetivamos demonstrar a técnica citada e avaliar os resultados do retalho bilobado no tratamento das clinodactilias da mão. Métodos Estudo retrospectivo entre janeiro de 2008 e janeiro de 2015. Foram incluídos cinco pacientes no estudo, nove dedos foram submetidos à cirurgia. Tiveram indicação cirúrgica os pacientes com desvios angulares nos dedos acima de 30 graus. Não foram excluídos do estudo os pacientes com deformidades no polegar, nem aqueles com deformidades associadas a síndromes. Foram avaliados os resultados funcionais e estéticos com o uso desta técnica, assim como as complicações e o grau de satisfação dos familiares. Resultados Todos os pacientes apresentaram resultados funcionais e estéticos satisfatórios, com cicatrização cutânea média de 18,6 dias. Entre os nove dedos submetidos à cirurgia, apenas um dos pacientes apresentou comprometimento vascular na porção distal do primeiro lobo do retalho, porém sem necrose ou necessidade de qualquer procedimento adicional. Os pacientes foram acompanhados durante um intervalo mínimo de 12 meses. Nenhuma deformidade ocorreu durante o período de observação. Conclusão O uso do retalho bilobado no tratamento das clinodactilias da mão é uma boa opção para cobertura cutânea após a realização de osteotomia.


Subject(s)
Humans , Osteotomy/methods , Surgical Flaps , Hand Deformities, Congenital/surgery , Retrospective Studies , Outcome Assessment, Health Care , Fingers/abnormalities
2.
Journal of Peking University(Health Sciences) ; (6): 590-593, 2021.
Article in Chinese | WPRIM | ID: wpr-942222

ABSTRACT

OBJECTIVE@#To analyze the clinical characteristics of 170 cases of macrodactyly.@*METHODS@#Medical records of 170 macrodactyly patients at Beijing Jishuitan Hospital between March 2006 and October 2019, including demographic characteristics, clinical presentations, anatomical distributions, X-rays, pathological findings, and treatments, were reviewed. PIK3CA mutation analyses of 12 patients were also reviewed.@*RESULTS@#Disease incidence was similar across sex and geographical regions. Multiple-digit involvement was 3.9 times more frequent than single-digit involvement. In upper deformit: ies, the index finger, middle finger and thumb were mostly involved, and the second and third toes were the most affected on the foot. Two digits were affected more often than three digits, with the affected multiple digits were adjacent most time. The cases of progressive macrodactyly, in which the affected digits grew at a faster rate than the unaffected digits, were found more than static type. Most of progressive macrodactyly were noticed at birth. In terms of nerve involvement, affected fingers mostly occurred in the median nerve innervation area (79.4%) accompanied by median nerve and brunches enlargement and fat infiltration, i.e., nerve territory oriented; affected toes mostly occurred in the medial plantar nerve innervation area (89.1%), marked with overgrowth of adipose tissue with a lesser degree of neural overgrowth, i.e., lipomatous. Only 17 cases had comorbid of syndactyly. The metacarpal bones were involved only in progressive type of macrodactyly. Ten of the 12 cases subjected to PIK3CA mutation analysis were positive. Among all tested specimens, PIK3CA mutation levels ranged from 7% to 27%. In terms of tissue sources in which a mutation was found, adipose tissue had the highest mutation detection rate, followed by nerve and skin. All the DNA samples of blood from the 12 PIK3CA mutation-positive patients were negative.@*CONCLUSION@#Macrodactyly fingers mostly occurred in the median nerve innervation area accompanied by median nerve and brunches enlargement and fat infiltration. The index and middle fingers were mostly involved. Macrodactyly toes mostly occurred in the medial plantar nerve innervation area, marked with overgrowth of adipose tissue with a lesser degree of neural overgrowth. The second and third toes were the most affected on the foot. A high proportion (83%) of isolated macrodactyly patients carry activating PIK3CA mutations. Adipose, nerve, and skin tissues provide the highest PIK3CA mutation detection yield among all types of tissue studied.


Subject(s)
Humans , Infant, Newborn , DNA Mutational Analysis , Fingers/abnormalities , Limb Deformities, Congenital , Mutation , Toes
4.
Rev. chil. pediatr ; 88(6): 781-786, dic. 2017. graf
Article in Spanish | LILACS | ID: biblio-900052

ABSTRACT

Resumen Introducción: La asociación Mardini-Nyhan o LACHT es una condición clínica de baja prevalência que cursa con alteraciones pulmonares, cardíacas y de las extremidades. Su etiología no está clara mente documentada hasta la fecha. Objetivo: Describir el caso de una niña de 4 meses y realizar una revisión de la literatura de los casos reportados sobre esta asociación, con el propósito de exponer las alteraciones encontradas y de esta forma orientar el diagnóstico temprano de esta entidad. Caso clínico: Niña de 4 meses de edad que ingresa a cuidado intensivo en insuficiencia respiratoria mixta, con alteraciones pulmonares, cardíacas y de extremidades que cumplen criterios para la asociación LACTH, se documenta adicionalmente hipoplasia de la vía aérea superior, que empeora la evolución, aumenta la dificultad en la ventilación mecánica y favorece el desenlace fatal a los 7 días de hospitali zación. Conclusiones: La asociación LACTH es una patología poco prevalente en la cual los hallazgos clínicos permiten sospechar el diagnóstico. Es caso clínico sería el primer caso diagnosticado en el continente americano y el caso número 11 descrito en la literatura mundial, aportando como nuevo hallazgo la asociación con hipoplasia de la vía aérea superior.


Abstract Introduction: The Mardini-Nyhan or LACHT association is a clinical condition of low prevalence that presents with pulmonary, cardiac and limb abnormalities, in which genetic etiology is not clearly documented to date. Objective: To describe the case of a 4-month-old child and the literature review of cases reported on this association, with the purpose of exposing the alterations found and thus gui de the early diagnosis of this entity. Clinical case: 4 months old girl, who admitted to intensive care in mixed respiratory failure, with pulmonary, cardiac and limb disorders that meet criteria for LACHT association, additionally documents hypoplasia of the upper airway, which worsens the evolution, increases the difficulty in mechanical ventilation and favors the fatal outcome at 7 days of hospita lization. Conclusions: LACTH association is a rare pathology in which the clinical findings make it possible to suspect the diagnosis, this is the first case diagnosed in the Americas and the number 11 case in the world literature and brings as a new finding the association with hypoplasia of the upper airway.


Subject(s)
Humans , Female , Infant , Abnormalities, Multiple/diagnosis , Limb Deformities, Congenital/diagnosis , Fingers/abnormalities , Heart Defects, Congenital/diagnosis , Lung/abnormalities , Lung Diseases/diagnosis , Fatal Outcome
5.
Arch. argent. pediatr ; 114(3): e167-e170, jun. 2016. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-838219

ABSTRACT

El síndrome FATCO, por las siglas en inglés de aplasia fibular (Fibular Aplasia), campomelia de tibia (Tibial Campomelia) y oligosindactilia (Oligosyndactyly), es un conjunto de malformaciones óseas, en las que la alteración se centra en los huesos de la pierna. Es una entidad rara y hay pocos casos descritos en la Literatura internacional, y, hasta ahora, no se ha descrito ningún caso en Colombia. Presentamos aquí el caso de un recién nacido de sexo masculino con signos clínicos de manera prenatal y posnatal consistentes con síndrome FATCO sin otras malformaciones asociadas. Exponemos también una breve discusión sobre las diferentes malformaciones óseas y otros casos de FATCO en el mundo.


The FATCO syndrome, (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly) are bone malformations with main alteration in lower limbs. It is a rare entity and there are few cases reported in international literature, and so far there are not published cases in Colombia. Here we present a case of a male newborn with prenatal and postnatal signs consistent with FATCO syndrome without other organs malformations, and there is a brief discussion about this syndrome and other different malformations associated with it.


Subject(s)
Humans , Male , Infant, Newborn , Foot Deformities, Congenital/diagnosis , Hand Deformities, Congenital/diagnosis , Syndactyly/diagnosis , Campomelic Dysplasia/diagnosis , Tibia/abnormalities , Toes/abnormalities , Fibula/abnormalities , Fingers/abnormalities
6.
Rev. bras. reumatol ; 56(1): 86-89, jan.-fev. 2016. graf
Article in English | LILACS | ID: lil-775212

ABSTRACT

Resumo A síndrome tricorrinofalangiana (STRF) tipo I é uma doença genética rara, relacionada com a mutação no gene TRPS1 do cromossomo 8. É caracterizada por anomalias craniofaciais e distúrbios na formação e maturação da matriz óssea. As características são cabelos ralos e quebradiços, tendência à calvície prematura, nariz bulboso em formato de pera, filtro nasal longo e plano e baixa implantação das orelhas. As alterações esqueléticas mais notáveis são a clinodactilia, as epífises das falanges das mãos em forma de cone, a baixa estatura e as malformações na articulação do quadril. Relata-se o caso de um adolescente diagnosticado com STRF e encaminhado para avaliação reumatológica em decorrência de queixas articulares.


Abstract The tricho-rhino-phalangeal syndrome (TRPS) type I is a rare genetic disorder related to the TRPS1 gene mutation in chromosome 8, characterized by craniofacial abnormalities and disturbances in formation and maturation of bone matrix. The hallmarks are sparse and brittle hair, tendency to premature baldness, bulbous nose called pear-shaped, long and flat filter and low ear implantation. The most noticeable skeletal changes are clinodactyly, phalangeal epiphyses of the hands appearing as cone-shaped, short stature and hip joint malformations. We report a case of a teenager boy diagnosed with TRPS and referred for rheumatologic evaluation due to joint complaints.


Subject(s)
Humans , Male , Adolescent , Transcription Factors/genetics , Langer-Giedion Syndrome/diagnosis , Langer-Giedion Syndrome/genetics , Nose/abnormalities , Arthralgia/etiology , DNA-Binding Proteins/genetics , Hair Diseases/diagnosis , Hair Diseases/genetics , Syndrome , Langer-Giedion Syndrome/physiopathology , Nose/physiopathology , Arthralgia/genetics , Finger Phalanges/abnormalities , Fingers/abnormalities , Fingers/physiopathology , Hair Diseases/physiopathology
7.
Rev. bras. cir. plást ; 31(2): 278-280, 2016. ilus
Article in English, Portuguese | LILACS | ID: biblio-1576

ABSTRACT

INTRODUÇÃO: A macrodactilia é uma anomalia rara e de etiologia desconhecida. Os primeiros casos foram descritos, em 1821, por Klein. Representa aproximadamente 1% de todas as anomalias congênitas. Surge no nascimento e caracteriza-se pelo crescimento dos dedos das mãos, dos pés ou de todo o membro; entretanto, pode se apresentar mais tardiamente, com os sintomas de compressão de nervo, podendo associar-se à síndrome do túnel do carpo. MÉTODOS: Estudo retrospectivo de quatro casos de macrodactilia atendidos no Hospital da Santa Casa Misericórdia de Campo Grande, MS, nos últimos 10 anos. RESULTADOS: Descrevemos quatro casos de macrodactilia, sendo três em quirodáctilos e um acometendo primeiro pododáctilo. Todos os pacientes tratados com procedimentos cirúrgicos, um dos casos com amputação de falanges e metacarpo. CONCLUSÕES: É recomendada a amputação como opção cirúrgica em alguns casos e o tratamento precoce da síndrome do túnel do carpo quando presente.


INTRODUCTION: Macrodactyly is a rare anomaly of unknown etiology. The first cases were described in 1821 by Klein. It represents approximately 1% of all congenital anomalies. It appears at birth and is characterized by excessive growth of the fingers, toes, or of the entire limb; however, its appearance may be delayed, with symptoms of nerve compression, and may present with carpal tunnel syndrome. METHODS: Retrospective study of four cases of macrodactyly treated at the Hospital da Santa Casa Misericórdia in Campo Grande, MS, in the last 10 years RESULTS: We describe four cases of macrodactyly: three in the fingers and one affecting the first toe. All patients were treated with surgical procedures, one with amputation of phalanges and metacarpals. CONCLUSIONS: Amputation is a surgical option recommended in some cases, as is the early treatment of carpal tunnel syndrome.


Subject(s)
Humans , Female , Child, Preschool , Child , History, 21st Century , Surgical Procedures, Operative , Congenital Abnormalities , Hand Deformities, Congenital , Foot Deformities, Acquired , Toes , Retrospective Studies , Limb Deformities, Congenital , Rare Diseases , Fingers , Amputation, Surgical , Surgical Procedures, Operative/methods , Congenital Abnormalities/surgery , Congenital Abnormalities/pathology , Hand Deformities, Congenital/surgery , Foot Deformities, Acquired/surgery , Foot Deformities, Acquired/pathology , Hand Deformities, Acquired/pathology , Toes/abnormalities , Toes/surgery , Limb Deformities, Congenital/surgery , Limb Deformities, Congenital/pathology , Rare Diseases/congenital , Rare Diseases/pathology , Fingers/abnormalities , Fingers/surgery , Amputation, Surgical/adverse effects , Amputation, Surgical/methods
8.
An. bras. dermatol ; 90(3): 423-425, May-Jun/2015. graf
Article in English | LILACS | ID: lil-749667

ABSTRACT

Abstract The Iso-Kikuchi Syndrome is a rare condition characterized by nail dysplasia involving the index fingers, including micronychia, polyonychia, anonychia, irregular lunula, malalignment and hemionychogryphosis. On the antero-posterior image, radiologic examination reveals a narrowing of the distal phalanx. The lateral image shows a Y-shaped bifurcation of the distal phalanx. We report a case of a patient with typical clinical and radiologic signs of Iso-Kikuchi Syndrome.


Subject(s)
Humans , Male , Adolescent , Finger Phalanges , Nails, Malformed , Syndrome , Radiography , Rare Diseases/congenital , Rare Diseases/diagnostic imaging , Finger Phalanges/abnormalities , Finger Phalanges/diagnostic imaging , Fingers/abnormalities , Fingers/diagnostic imaging , Nails, Malformed/congenital , Nails, Malformed/diagnostic imaging
11.
Rev. chil. pediatr ; 85(5): 578-583, oct. 2014. ilus, tab
Article in Spanish | LILACS | ID: lil-731645

ABSTRACT

Introduction: Ellis-van Creveld (EVC) (OMIM # 225500) syndrome is a rare skeletal dysplasia disorder transmitted by autosomal recessive inheritance. The diagnosis is made based on phenotypic characteristics such as chondrodysplasia, heart defects and polydactyly. The prognosis depends mainly on the severity of the disease, diagnosis and comprehensive management of the condition. Objective: To describe a patient diagnosed with EVC syndrome. Case report: Newborn diagnosed with EVC syndrome who presented dysmorphic facies, shortened long bones, rhizomelic shortening, small hands, brachydactyly, single transverse palmar crease, postaxial polydactyly in the upper limbs, bilateral preaxial polysyndactyly in lower limbs and hypoplastic nails, complex heart defects and narrow thorax. The evolution was unfavorable; the patient died 8 weeks after birth from complications due to heart defects. Conclusions: EVC syndrome is rare and unknown; therefore, it is important to spread its characteristics within the pediatric community, emphasizing that it affects multiple organ systems and requires a multidisciplinary approach to treat individually each patient, to provide genetic and reproductive counseling to couples and to give information regarding child development expectations.


Introducción: El síndrome Ellis-van Creveld (EVC) (OMIM #225500) es una displasia esquelética rara de herencia autosómica recesiva, cuyo diagnóstico se realiza por sus características fenotípicas como la condrodisplasia, cardiopatía y polidactilia. El pronóstico depende fundamentalmente de la severidad de la cardiopatía, al igual que del diagnóstico y manejo integral oportunos. Objetivo: Caracterizar un paciente con diagnóstico clínico de Síndrome de EVC, cuya baja frecuencia dificulta el correcto diagnóstico en pediatría. Caso clínico: Recién nacido con facies dismórfica, extremidades con huesos largos cortos, acortamiento rizomélico, manos pequeñas, braquidactilia, pliegue palmar único, polidactilia post axial en miembros superiores, polisin-dactilia preaxial bilateral en miembros inferiores y uñas hipoplásicas, cardiopatía compleja y tórax estrecho, en el que se concluyó un diagnóstico clínico de EVC. La evolución fue desfavorable, falleciendo a las 8 semanas de nacimiento por complicaciones secundarias a la cardiopatía. Conclusiones: El síndrome de EVC es de baja frecuencia y poco conocido, por lo que es importante difundir sus características en la comunidad pediátrica, haciendo énfasis en que al afectar múltiples sistemas y órganos, requiere un manejo multidisciplinario con el objetivo de intervenir en la patología individualizando cada paciente; además de consejería genética y reproductiva a las parejas, e información de las expectativas del desarrollo del niño.


Subject(s)
Humans , Male , Infant, Newborn , Ellis-Van Creveld Syndrome/physiopathology , Toes/abnormalities , Polydactyly/etiology , Fingers/abnormalities , Heart Defects, Congenital/etiology , Fatal Outcome , Heart Defects, Congenital/physiopathology
12.
Article in English | IMSEAR | ID: sea-154465

ABSTRACT

Poland’s syndrome is a rare congenital anomaly consisting of a unilateral absence of the pectoralis major, ipsilateral muscle, hand anomaly and occasionally associated other malformations of the chest wall and breast. Many structural and functional abnormalities have been described in association with this syndrome. We report an incidentally diagnosed case in a 27-year-old male patient who presented to us with symbrachydactyly. In addition to this, anterior depression of 2nd, 3rd and 4th ribs and bifid (forked) 5th rib was present on radiological investigations. The body of sternum was short and deformed on the right side with absence of xiphoid process. All middle phalanges were absent on right hand. It is a rare variant of Poland’s syndrome.


Subject(s)
Adult , Fingers/abnormalities , Fingers/diagnostic imaging , Humans , Male , Muscular Diseases/complications , Pectoralis Muscles/abnormalities , Poland Syndrome/complications , Ribs/abnormalities , Syndactyly/complications
13.
Indian J Hum Genet ; 2014 Apr-Jun ; 20 (2): 206-208
Article in English | IMSEAR | ID: sea-156664

ABSTRACT

Cooks syndrome is characterized by familial congenital anonychia or onychodystrophy, hypoplasia or absence of distal phalanges of the hands and feet with brachydactyly of the fifth finger and digitalization of the thumb (triphalangism). It is listed as a “rare disease” by the Office of Rare Diseases of the National Institutes of Health. Here, we report a case of congenital anonychia and brachydactyly of the left foot, which possibly is a variant of Cooks syndrome with a positive family history of similar deformity.


Subject(s)
Adult , Brachydactyly/epidemiology , Brachydactyly/genetics , Congenital Abnormalities/genetics , Family/history , Fingers/abnormalities , Foot/abnormalities , Foot Deformities/genetics , Humans , Male , Siblings/epidemiology
14.
Rev. bras. ortop ; 49(2): 134-139, Mar-Apr/2014. graf
Article in English | LILACS | ID: lil-711153

ABSTRACT

OBJECTIVE: to retrospectively assess the results from cases treated in the hand surgery service, starting from a preestablished protocol; and to conduct a critical analysis on the results achieved, with separation of the cases into their respective subgroups. METHODS: twenty-three patients and a total of 40 fingers were evaluated between January 2004 and December 2011. We correlated the altered anatomical structures found in the cases that underwent the surgical procedure and its results, with regard to both conservative and surgical treatment, emphasizing the main indications. RESULTS: the results were analyzed using the Sierget method of the Mayo Clinic. CONCLUSION: we observed that the cases of camptodactyly of the little finger alone in the flex-ible form (>60◦) that underwent surgical treatment uniformly presented excellent results. In the rigid forms, our observations indicated that there were benefits comprising gains of extension and correction of the deformity. However, the range of motion with active flexion in the proximal interphalangeal joint was always partial. With evolution over time, some cases presented some loss of the gain previously achieved, which corroborates the need for continual vigilance during the follow-up, with systematic use of braces until the final phase of skeletal growth...


OBJETIVOS: avaliar, retrospectivamente, os resultados dos casos tratados no serviço de Cirurgia da Mão, a partir de um protocolo preestabelecido; e fazer uma análise crítica dos resultados alcançados, com a separação dos casos em seus respectivos subgrupos. MÉTODOS: foram avaliados 23 pacientes, num total de 40 dígitos, de janeiro de 2004 a dezembro de 2011. Relacionamos as estruturas anatômicas alteradas encontradas nos casos que foram submetidos a procedimento cirúrgico e seus resultados, tanto no tratamento conservador como no cirúrgico, e enfatizamos suas principais indicações. RESULTADOS: os resultados foram analisados pelo método de Sierget da clínica Mayo. Conclusão: observamos que os casos de camptodactilia isolada do dedo mínimo na forma flexível, > 60◦, que foram submetidos a tratamento cirúrgico de maneira uniforme apresentaram resultados excelentes. Nas formas rígidas, nossas observações indicam benefícios com ganho de extensão e correção da deformidade. Entretanto, o arco de movimento com flexão ativa na interfalângica proximal (IFP) é sempre parcial. Com o tempo de evolução, alguns casos apresentaram alguma perda do ganho previamente alcançado, o que corrobora a permanente vigilância necessária no acompanhamento, com uso sistemático de órteses, até a fase final do crescimento esquelético...


Subject(s)
Humans , Male , Female , Fingers/abnormalities , Hand Deformities, Congenital/surgery , Hand Deformities, Congenital/therapy , Evaluation of Results of Therapeutic Interventions
15.
Indian J Hum Genet ; 2013 Apr; 19(2): 202-206
Article in English | IMSEAR | ID: sea-149430

ABSTRACT

OBJECTIVE: Proteus syndrome (PS) is characterized by patchy or segmental overgrowth and hyperplasia of multiple tissues and organs, along with susceptibility to development of tumors. Very few cases are reported in literature from developing countries. Due to certain overlapping features with other overgrowth syndromes, diagnosis is usually delayed. Our aim was to describe clinical profile of this rare condition in six patients. MATERIALS AND METHODS: Retrospective case sheet review of patients followed in a Pediatric Genetic and Metabolic clinic at a tertiary care institute of North India with a diagnosis of hemihypertrophy/overgrowth syndrome. RESULTS: Six cases presented with asymmetric overgrowth and peculiar features suggestive of PS were included in this study. Age at presentation was 2 months to 10 years; two were males and four were females. Hemihypertrophy was noticed in only one case at birth, and focal overgrowths in rest of other patients were seen later during childhood. CONCLUSION: Due to certain overlapping features with other overgrowth syndromes, diagnosis of PS is usually delayed. Pediatricians are the first persons who come across such patients and they should be aware about this rare condition.


Subject(s)
Child, Preschool , Female , Fingers/abnormalities , Hamartoma/diagnosis , Hamartoma/epidemiology , Hypertrophy/congenital , Hypertrophy/diagnosis , Hypertrophy/epidemiology , Humans , Infant , Limb Deformities, Congenital/diagnosis , Limb Deformities, Congenital/epidemiology , Lipoma/diagnosis , Lipoma/epidemiology , Male , Proteus Syndrome/diagnosis , /epidemiology
16.
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2013; 23 (3): 219-220
in English | IMEMR | ID: emr-140534

ABSTRACT

Congenital transverse limb anomalies are rare, which affect upper and/or lower limbs and may accompany several syndromic malformations. We present a sporadic male subject with congenital, unilateral transverse arrest of the left hand. The affected arm was observed to be short with reduced zeugopod and truncated palm. Fingers were represented by five bead-like nubbins. Roentgenographic examination revealed short radius and ulna with hypoplastic distal heads, absent carpals/metacarpals, and a hypoplastic bony island in each nubbin. Consanguinity was denied, and the subject had no symptoms in the orofacial, neurological and skeletal systems. Detailed clinical data with literature survey is presented


Subject(s)
Humans , Male , Upper Extremity Deformities, Congenital , Upper Extremity , Fingers/abnormalities
17.
J. pediatr. (Rio J.) ; 88(5): 401-405, set.-out. 2012. ilus, tab
Article in Portuguese | LILACS | ID: lil-656030

ABSTRACT

OBJETIVO: Verificar a frequência e os tipos de anormalidades de membros observadas entre pacientes com trissomia do cromossomo 18, ou síndrome de Edwards (SE). MÉTODO: A amostra foi constituída de pacientes consecutivos avaliados por um serviço de genética clínica no período entre 1975 e 2008. O resultado da análise citogenética, bem como os dados clínicos, foram coletados a partir dos prontuários médicos, dando-se ênfase aos seus achados de membros. Todos foram submetidos ao exame de cariótipo no mesmo laboratório. RESULTADOS: No período de avaliação, foram identificados 50 pacientes, 33 deles (66%) do sexo feminino, com idade na primeira avaliação variando de 1 dia a 16 anos (mediana de 14 dias). A linhagem única com trissomia livre do cromossomo 18 foi a alteração cromossômica predominante (90%). Mosaicismo foi verificado em 10% dos casos. A anormalidade predominante de membros superiores observada na amostra (n = 50) foi o punho cerrado com sobreposição dos dedos (70%). Outras alterações frequentes incluíram a prega palmar única (42%) e a hipoplasia das unhas (36%). Anormalidades radiais foram observadas em 11 pacientes (22%). Quanto aos membros inferiores, a hipoplasia de unhas foi a alteração mais comum (58%), seguida do pé em mata-borrão com calcâneo proeminente (50%). Um dos pacientes possuía ainda ectrodactilia unilateral. CONCLUSÕES: Apesar da descrição clássica, as anormalidades de membros podem ser bastante variáveis na SE. Alguns pacientes podem ainda apresentar alterações não usuais, como defeitos radiais e ectrodactilia. Esses achados são de extrema importância para a suspeita e a identificação clínica precoce dos pacientes com a SE.


OBJECTIVE: To assess the frequency and types of limb abnormalities observed among patients with trisomy 18, or Edwards syndrome (ES). METHOD: The sample consisted of consecutive patients evaluated by a clinical genetics service in the period from 1975 to 2008. The results of the cytogenetic analysis, as well as the clinical data were retrieved from the medical records, with special attention to limb abnormalities findings. All the karyotype analysis was performed at the same laboratory. RESULTS: During the study period, 50 patients were identified, 33 (66%) of them females, with ages at the first evaluation ranging from 1 day to 16 years (median 14 days). The single lineage with free trisomy 18 was the most frequent chromosomal disorder (90%). Mosaicism was observed in 10% of the cases. Clenched fist with overlapping fingers was the predominant anomaly of the upper limbs (70%). Other common disorders included the single palmar crease (42%) and hypoplastic nails (36%). Radial abnormalities were found in 11 patients (22%). As for the lower limbs, hypoplastic nails were the most common abnormality (58%), followed by the rocker bottom foot with prominent calcaneus (50%). One patient had unilateral ectrodactyly as well. CONCLUSIONS: Despite the classical description, limb anomalies can be much variable in ES. Some patients may show unusual abnormalities, such as radial defects and ectrodactyly. These findings are extremely important for the clinical suspicion and early identification of patients with ES.


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , /genetics , Limb Deformities, Congenital/diagnosis , Limb Deformities, Congenital/genetics , Lower Extremity Deformities, Congenital/diagnosis , Trisomy/diagnosis , Upper Extremity Deformities, Congenital/diagnosis , Early Diagnosis , Fingers/abnormalities , Karyotyping , Lower Extremity Deformities, Congenital/genetics , Mosaicism , Retrospective Studies , Trisomy/genetics , Upper Extremity Deformities, Congenital/genetics
18.
Radiol. bras ; 45(3): 173-174, maio-jun. 2012. ilus
Article in English | LILACS | ID: lil-640284

ABSTRACT

A síndrome de Poland é uma anomalia congênita rara não hereditária. Os autores descrevem os achados radiológicos clássicos da síndrome de Poland através de um relato de caso de um paciente masculino de quatro anos de idade com assimetria torácica e das mãos, ilustrando os critérios imaginológicos fundamentais para a conclusão diagnóstica.


Poland's syndrome is a rare non-inherited congenital anomaly. The authors describe the classic radiologic findings of Poland's syndrome by reporting the case of a male four-year old patient with asymmetry of hands and chest, illustrating the fundamental imaging criteria for a conclusive diagnosis.


Subject(s)
Humans , Male , Child, Preschool , Congenital Abnormalities/diagnosis , Congenital Abnormalities/genetics , Brachydactyly , Fingers/abnormalities , Hand Deformities, Congenital , Poland Syndrome/diagnosis , Thorax/abnormalities , Radiography , Tomography, X-Ray Computed , Ultrasonography, Doppler
19.
Med. infant ; 19(2,n.esp): 174-176, jun. 2012. ilus
Article in Spanish | LILACS | ID: lil-774298

ABSTRACT

El Diagnóstico es Sindrome de Ectrodactilia-displasia ectodermica y Fisura palatina (EEC Syndrome) (Ectrodactyly-ectodermic dysplasia-cleft).


Subject(s)
Humans , Male , Child, Preschool , Fingers/abnormalities , Ectodermal Dysplasia/diagnosis , Ectodermal Dysplasia/genetics , Cleft Palate/diagnosis , Cleft Palate/genetics , Argentina
20.
Journal of Korean Medical Science ; : 225-227, 2012.
Article in English | WPRIM | ID: wpr-33789

ABSTRACT

Hereditary sclerosing poikiloderma (HSP) is a very rare disease. The clinical features are principally widespread poikiloderma and linear hyperkeratotic and sclerotic bands. We report an 18-yr-old male who presented reticular hyperpigmented lesions on the trunk and extremities since 2-yr-old. Also, linear sclerosing bands appeared on both antecubital and popliteal fossae after yr. Histopathologic finding showed dense sclerotic collagen fibers with telangiectasia in the upper dermis and fragmentations of damaged elastic fibers in the elastic stain, consistent with HSP. We report the first Korean case of HSP.


Subject(s)
Adolescent , Humans , Male , Abnormalities, Multiple , Elastic Tissue/pathology , Fingers/abnormalities , Hyperpigmentation/pathology , Micrognathism/pathology , Rothmund-Thomson Syndrome/diagnosis , Sclerosis/pathology , Skin Diseases/diagnosis
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