الملخص
Resumen: Introducción: La mano zamba radial congénita se caracteriza por la desviación radial de la mano como resultado de hipoplasia o ausencia del radio. Material y métodos: Se realizó un estudio descriptivo, retrospectivo, transversal y observacional de los pacientes activos con diagnóstico de mano zamba radial. Resultados: Se estudiaron 71 pacientes y 92 extremidades, la prevalencia en nuestro hospital fue de 0.08%, 64.7% fueron hombres y 35.3% mujeres. Se observaron 22 pacientes con afectación de la extremidad torácica derecha, 28 de la izquierda y 21 pacientes bilateral. Se encontró que 93% de los pacientes presentaban un síndrome asociado. El tipo de displasia longitudinal radial más común fue la tipo I. Cincuenta y ocho extremidades no contaban con pulgar. El Estado de México es el más afectado y 91.6% contaban con un responsable tutelar con escolaridad máxima de preparatoria.
Abstract: Introduction: Radial club hand is characterized by radial deviation of the hand, as a result of hypoplasia or absence of the radius. Material and methods: A descriptive, retrospective, cross-sectional and observational study of active patients diagnosed with radial club hand at the Shriners-Mexico Hospital was carried out. Results: We studied 71 patients and 92 limbs, the prevalence was 0.08%, 64.7% were men and 35.3% women. We observed 22 patients with involvement of the right thoracic extremity, 28 left and 21 bilateral. It was found that 93% of the patients had an associated syndrome. The most common type of radial longitudinal dysplasia was type 1. 58 limbs did not have a thumb. The State of Mexico is the most affected and 91.6% had a guardian with maximum high school education.
الموضوعات
Humans , Male , Female , Adult , Radius/pathology , Hand Deformities, Congenital/epidemiology , Prevalence , Cross-Sectional Studies , Retrospective Studies , Mexico/epidemiologyالملخص
Objectives: To present descriptive epidemiology of Orofacial Clefts and to determine the association of syndromic forms with antenatal high-risk conditions, preterm birth, and comorbidities among nested-series of cases. Methods: A study of nested-series of cases was conducted. Frequencies of cleft type, associated congenital anomalies, syndromic, non-syndromic and multiple malformation forms, and distribution of Orofacial Clefts according to sex and affected-side were determined. Odds ratios were calculated as measures of association between syndromic forms and antenatal high-risk conditions, preterm birth and comorbidities. A total of three hundred and eleven patients with Orofacial Clefts were assessed in a 12-month period. Results: The most frequent type of Orofacial Clefts was cleft lip and palate, this type of cleft was more frequent in males, whereas cleft palate occurred more often in females. The most common cases occurred as non-syndromic forms. Aarskog-Scott syndrome showed the highest frequency amongst syndromic forms. Hypertensive disorders in pregnancy, developmental dysplasia of the hip, central nervous diseases and respiratory failure showed significant statistical associations (p <0.05) with syndromic forms. Conclusions: These data provide an epidemiological reference of Orofacial Clefts in Colombia. Novel associations between syndromic forms and clinical variables are determined. In order to investigate causality relationships between these variables further studies must be carried out.
Objetivos: Presentar la epidemiología descriptiva en torno a las Fisuras Orofaciales y determinar asociaciones entre Fisuras Orofaciales sindromica y antecedentes antenatales de alto riesgo, parto pretérmino, y comorbilidades en una población Colombiana. Métodos: Se planteó un estudio de serie de casos anidado estratificado. Se calcularon frecuencias en relación al tipo de fisura desde el punto de vista anatómico, anomalías congénitas paralelas, morbilidades y forma clínica. Se analizó la distribución de las Fisuras Orofaciales de acuerdo al género y lateralidad. Se determinaron razones de disparidad entre la forma sindrómica y antecedentes antenatales de alto riesgo, parto pretérmino, y comorbilidades. Se evaluaron trecientos once pacientes que asistieron a la consulta de genética clinica durante un año. Resultados: La Fisura Labio-palatina fue el tipo más frecuente en la muestra evaluada y la más frecuente en hombres. La Fisura Palatina fué la más frecuente en mujeres, la forma clínica más común fue la no sindrómica. En la población sindrómica el Síndrome de Aarskog-Scott mostró la frecuencia más alta. Los trastornos Hipertensivos de Embarazo, la Displasia del Desarrollo de la Cadera, las enfermedades respiratorias y del sistema nervioso central mostraron una asociación estadísticamente significativa con la forma sindrómica. (p <0.05). Conclusiones: Estos datos ofrecen una referencia epidemiológica descriptiva de las Fisuras Orofaciales en Colombia. Las asociaciones encontradas entre los aspectos clínicos estudiados y la forma sindrómica, deben ser investigadas en próximos estudios con el fin de determinar relaciones de causalidad.
الموضوعات
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Middle Aged , Cleft Lip/epidemiology , Cleft Palate/epidemiology , Age Distribution , Colombia/epidemiology , Dwarfism/epidemiology , Face/abnormalities , Genetic Diseases, X-Linked/epidemiology , Genitalia, Male/abnormalities , Hand Deformities, Congenital/epidemiology , Heart Defects, Congenital/epidemiology , Sex Distribution , Syndromeالملخص
Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefting. Even though literature has documented the association of various genetic disorders with aggressive periodontitis, the periodontal manifestations in patients with EEC syndrome have never been addressed. This case report presents the periodontal status of three patients in a family with EEC syndrome. The presence of generalized aggressive periodontitis was noticed in these patients. EEC syndrome could be a new addition to the group of genetic disorders associated with aggressive periodontitis.
الموضوعات
Aggressive Periodontitis/epidemiology , Aggressive Periodontitis/genetics , Ectodermal Dysplasia/epidemiology , Ectodermal Dysplasia/genetics , Female , Foot Deformities, Congenital/epidemiology , Foot Deformities, Congenital/genetics , Hand Deformities, Congenital/epidemiology , Hand Deformities, Congenital/genetics , Humans , Young Adultالملخص
Ectrodactyly, ectodermal dysplasia and cleft palate syndrome is a rare autosomal dominant multiple congenital anomaly syndrome with variable expressivity and reduced penetration. The cardinal features are cleft palate/lip, lobster hand deformity, sparse hypopigmented hair, dry scaly skin, and lacrimal and urogenital anomalies. A neonate presented to us with typical features, his mother and other two siblings were also affected.
الموضوعات
Abnormalities, Multiple/etiology , Adult , Child , Cleft Lip/epidemiology , Cleft Lip/genetics , Cleft Palate/epidemiology , Cleft Palate/genetics , Cluster Analysis , Ectodermal Dysplasia/epidemiology , /genetics , Foot Deformities, Congenital/epidemiology , Foot Deformities, Congenital/genetics , Hand Deformities, Congenital/epidemiology , Hand Deformities, Congenital/genetics , Fingers/abnormalities , Hair Color , Humans , Ichthyosis/etiology , Infant, Newborn , Lacrimal Apparatus/abnormalities , Pigmentation Disorders/etiology , Siblings , Syndrome , Urogenital Abnormalities/etiologyالملخص
Palmaris longus (PL) muscle, although of little functional use to the human upper limb, assumes great importance when used as a donor tendon for transfer or transplant. The surgeon's awareness of the incidence in a population is therefore desirable. In the present study, 500 Medical students (242 males and 258 females) of ages 16 to 40 years from both College of Medicine of the University of Lagos, Idi-Araba and Lagos State University College of Medicine, Ikeja were examined for the presence or absence of the PL tendon, using the conventional (Schaffer's) test. The prevalence and pattern of PL agenesis was further analyzed statistically for differences in the prevalence or pattern of PL agenesis with regard to body side or sex. The prevalence of PL agenesis was found to be 12.6 percent (8 percent Unilateral and 4.6 percent Bilateral). Out of those with unilateral agenesis, 20 (4 percent) had left-sided agenesis and 20 (4 percent) had right-sided agenesis. Although female subjects had a prevalence of agenesis of PL tendon (Unilateral and Bilateral combined) of 36 out of 258, (13.95 percent) while in male subjects this prevalence was 23 out of 242 (9.5 percent). The prevalence of PL muscle agenesis in this study was found to be much higher than the reported average for blacks (2-3 percent).
El músculo palmar largo (PL), aunque de poco uso funcional en el miembro superior humano, asume gran importancia cuando se utiliza como un tendón donante para la transferencia o trasplante. El cirujano ha tomado conciencia que la incidencia en una población es por tanto deseable. En el presente estudio, 500 estudiantes de medicina (242 hombres y 258 mujeres) de 16 a 40 años, de la Facultad de Medicina de la Universidad de Lagos (Idi-Araba) y la Facultad de Medicina de la Universidad Estatal de Lagos (Ikeja) fueron examinados para evaluar la presencia o ausencia del tendón del PL, utilizando la prueba convencional (Schaffer's). La prevalencia y el patrón de agenesia del PL fueron determinados para analizar diferencias estadísticas en la prevalencia o patrón de agenesia del PL con respecto al lado del cuerpo o sexo. Se encontró una prevalencia de agenesia del PL de 12,6 por ciento (8 por ciento y 4,6 por ciento unilateral y bilateralmente). De los sujetos con agenesia unilateral, 20 (4 por ciento) eran en el lado izquierdo y 20 (4 por ciento) en el lado derecho. Las mujeres tuvieron una prevalencia de agenesia del tendón del PL (unilaterales y bilaterales combinadas) en 36 de 258 (13,95 por ciento), mientras que en los hombres esta prevalencia fue en 23 de 242 (9,5 por ciento). La prevalencia de agenesia del músculo PL en este estudio se encontró mucho más alto que el promedio reportado para los negros (2-3 por ciento).
الموضوعات
Humans , Male , Adolescent , Adult , Female , Muscle, Skeletal/anatomy & histology , Muscle, Skeletal/abnormalities , Tendons/anatomy & histology , Tendons/abnormalities , Black People , Hand Deformities, Congenital/epidemiology , Wrist/anatomy & histology , Wrist/abnormalities , Nigeria/epidemiology , Prevalenceالملخص
Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation.
الموضوعات
Child , Foot Deformities, Congenital/diagnosis , Foot Deformities, Congenital/epidemiology , Foot Deformities, Congenital/genetics , Foot Deformities, Congenital/therapy , Genetic Counseling , Hand Deformities, Congenital/diagnosis , Hand Deformities, Congenital/epidemiology , Hand Deformities, Congenital/genetics , Hand Deformities, Congenital/therapy , Limb Deformities, Congenital/diagnosis , Limb Deformities, Congenital/epidemiology , Limb Deformities, Congenital/genetics , Limb Deformities, Congenital/therapy , Humans , Male , Prenatal Diagnosis , Syndactyly/geneticsالملخص
A lot has been reported about variation of palmaris longus muscle in journals and conventional textbooks. The incidence of palmaris longus muscle absence among people of the six geo-political zones of Nigeria was evaluated using 600 subjects. 31.25 percent (187 subjects) lack palmaris longus muscleon either of the forearms. 12.5 percent (75 subjects) shows unilateral absence and 18.75 percent (112 subjects) shows bilateral absence. 25 percent (150) of subjects lacks palmaris longus muscleon their right forearms while 25 percent also lacks it on their left forearms. 6 percent (37) shows double tendons of palmaris longus muscleon both forearms. Highest incidence of absence was recorded among people of South-West zone.
Mucho se ha informado acerca de la variación del músculo palmar largo en revistas y libros de texto convencionales. La incidencia de ausencia del músculo palmar largo entre las personas de las seis zonas geo-políticas de Nigeria se evaluó usando 600 sujetos. 31,25 por ciento (187 sujetos) no tenían músculo palmar largo en cualquiera de los antebrazos, 12,5 por ciento (75 sujetos) mostró ausencia unilateral y 18,75 por ciento (112 sujetos) mostró ausencia bilateral. 25 por ciento (150) de los sujetos carece de músculo palmar largo en su antebrazo derecho, mientras que el 25 por ciento carece de él también en su antebrazo izquierdo. 6 por ciento (37) muestra dobles tendones de músculo palmar largo en ambos antebrazos. Mayor incidencia de ausencia se registró entre las personas de la zona Sur-Oeste.