RESUMO
Introducción. La hipoplasia dérmica focal o síndrome de Goltz es una displasia que afecta tejidos de origen ectodérmico y mesodérmico; muestra herencia dominante ligada al cromosoma X con latelidad in utero para los varones y en las mujeres presenta expresividad variable. Los varones afectados han correspondido a los primeros casos en la familia, por lo que se ha postulado una mutación de media cromátide en estadios tempranos de la embriogénesis con el fin de explicar el mosaico somático y germinal presente en los pacientes. Caso clínico. Se describe el caso de un varón afectado con una genodermatosis caracterizada por hipoplasia de dermis que sigue las líneas de blaschko, talla baja, microcefalia, asimetría facial, microftalmía derecha, persistencia de membrana pupilar, camptodactilia, sindactilia cutánea, hipotricosis, displasia ungueal e hipoplasia de esmalte. Se discuten los mecanismos hereditarios implicados con fines de asesoramiento genético en varones afectados. Conclusión para fines de asesoramiento genético, los riesgos para hipoplasia dérmica focal, sobre todo en casos esporádicos, deben establecerse en base a herencia dominante ligada al cromosoma X, a menos que el árbol genealógico sugiera otro patrón de transmisión hereditaria
Assuntos
Humanos , Pré-Escolar , Genes Dominantes/genética , Hipoplasia Dérmica Focal/genética , Mosaicismo , Mutação/genética , Cromossomo X/genética , Doenças Genéticas Inatas/genéticaRESUMO
Introducción. El síndrome de Aarskog-Scott es un padecimiento con herencia recesiva ligada al cromosoma X, caracterizado por talla baja desproporcionada, alteraciones faciales y digitales. Casos clínicos. Se describen 3 familias con 7 varones afectados y 9 portadoras de esta enfermedad. Los signos clínicos más frecuentes en los pacientes fueron: talla baja, escroto en rebozo, hipertelorismo ocular, ptosis palpebral, hipoplasia malar, narinas antevertidas, filtrum largo y sindactilia cutánea. En las familiares se determinó el estado de portadoras clínicamente por la presencia de hipertelorismo ocular, filtrum largo, ptosis palpebral y narinas antevertidas. Conclusión. Se discute la importancia de contar con herramientas clínicas para detectar a las portadoras de genes deletéreos con fines de asesoramiento genético, así como los avances logrados en biología molecular con respecto al gen responsable de este padecimiento
Assuntos
Humanos , Masculino , Criança , Blefaroptose/diagnóstico , Aberrações Cromossômicas , Triagem de Portadores Genéticos , Hipertireoidismo/diagnóstico , Biologia Molecular/estatística & dados numéricos , Escroto/anormalidades , Escroto/anatomia & histologia , Síndrome , Cromossomo XRESUMO
The present article report the results of longitudinally research, on growth children, of both sex and ages from 0 to 1 year of extrauterine life. We obtained measures that appraisal the muscular and fat tissues: upper arm and leg circumferences; muscle and fat of upper arm areas; triceps, subscapular and supra-iliac skinfolds. Moreover, we report relationship dates between weight and stature, which is a good indicator for morphological body equilibrium.
Assuntos
Composição Corporal , Crescimento , Antropometria , Feminino , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , Masculino , México , Caracteres SexuaisRESUMO
The corporal segment that display the major growth velocity before and after born is the head; that is, once a baby is born, it represents the fourth part of the stature, it has the greater corporal circumference, and their development is superior than other corporal segments. However, the growth shape of the craniofacial structures is different; so, the growth gradient of brain, is the responsible of the morphological view described previously; the facial structures follow the general growth curve; moreover, the facial bone that contributes with the growth of brain, describes mixed growth gradients. This complex shape of the head growth, requires the existence of growth standards for these structures. The present paper describes the results of longitudinal research on head growth. We studied 200 children of both sex and ages from 0 to 1 year of extrauterine life. We got 18 growth measures of the head, such as: head circumference, head length and width, minimum frontal diameter; head, total facial, upper facial, and nose height; bizygomatic, bigonial, external bipalpebral, internal bipalpebral and nose widths; length and width of lips and ear. Moreover, we report the final increments and the differences on sexual dimorphism.
Assuntos
Cabeça/crescimento & desenvolvimento , Fatores Etários , Cefalometria , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Fatores SexuaisRESUMO
Keeping up to date the children growth and development standards, it is a necessity of main order for Health Secretary, because of it is possible an adequate pediatric evaluation. The present study, reports the results of a longitudinal research on growth in children of both sexes and ages from 0 to 1 year of extrauterine life. In all, we got 44 growth measures of the body, head and corporal composition. This report describes the shape of growth body, illustrates the general parameters of growth: stature and weight. Also it includes the dates correspondent to corporal segment growth: sitting height, upper and lower segments; upper extremity, upper arm, lower arm, hand, lower extremity, thigh, leg and foot lengths; ankle height; biacromial, bicrestal, thorax, elbow, wrist, hand, knee, ankle and foot breadths; and thorax depth. Moreover, we report the final increments for corporal segments studied, and the differences on sexual dimorphism. We describe the methodology, socioeconomic and cultural custom results. The sample was classificated within middle lower social class.
Assuntos
Estatura , Crescimento , Dieta , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Idade Materna , Paridade , Caracteres Sexuais , Fatores SocioeconômicosRESUMO
The onset of production of spermatozoa (spermarche) indicates the beginning of reproductive capacity in men. With the purpose to establish the age of initiation of spermaturia, we performed a transversal study in 669 Mexican boys aged 9-16 years old, searching for the presence of spermatozoa in the first urine sample during five consecutive days. Besides, physical examination, including Tanner stages for genitalia and pubic hair was practiced. Spermarche (E+) occurred when the median age was 13.4 +/- 1.01 yr, the median height 155.2 +/- 8.9 cm, and the Tanner stage G2P1. The boys in Tanner stage G2P1 and E+ showed important differences in the following parameters, when they were compared with the boys in Tanner stage G2P1 and E-: height, weight, corporal surface and muscular area of the arm. The findings could be explained by the relationship between structure and function when the cellular lineages are established during different phases of development.