RESUMO
La displasia cleidocraneal es una displasia esquelética autosómica dominante causada por mutaciones en el gen RUNX2, con una prevalencia estimada de 1/1 000 000 de recién nacidos. Se presentan 37 pacientes (22 mujeres) evaluados entre 1992 y 2016 en las clínicas de displasias esqueléticas, Hospital Garrahan, Argentina. Hallazgos: 35% de antecedentes familiares positivos; edad mediana al momento del diagnóstico: 2,61 años; características radiológicas positivas en el cráneo y el pubis: 95%; en las clavículas: 100%. Las complicaciones dentales y auditivas fueron comunes. Auxología: mediana de estatura de -1,81 (-3,26-0,2) DE en los varones, -1,36 (-4,28-1,36) DE en las mujeres. Cinco de trece pacientes fueron bajos para la estatura parental. Estatura adulta (mediana): 162,8 cm y 149,2 cm en los varones y las mujeres. No fueron evidentes alteraciones en la proporción estatura sentada/estatura. Un paciente presentó macrocefalia real; 12 (32%), macrocefalia relativa. Se describe variabilidad intrafamiliar de estatura.
Cleidocranial dysplasia is an autosomal dominant skeletal dysplasia caused by mutations in the RUNX2 gene; its prevalence has been estimated at 1/1 000 000 newborn infants. This study presents 37 patients (22 girls) assessed between 1992 and 2016 at the Skeletal Dysplasias Multidisciplinary Clinics of Hospital Garrahan, Argentina. Findings: 35% of positive family history; median age at the time of diagnosis: 2.61 years old; positive radiological findings in the skull and pubis: 95%; in the clavicles: 100%. Dental and hearing complications were common. Auxology: boys had a median height of -1.81 SD (-3.26 to 0.2) and girls had a median height of -1.36 SD (-4.28 to 1.36). Five out of 13 patients were short for parental height. Adult height (median): 162.8 cm in boys and 149.2 cm in girls. No evident alterations were observed in the sitting height/height ratio. One patient had true macrocephaly; 12 (32%), relative macrocephaly. Intrafamily variability was described in terms of height.
Assuntos
Humanos , Clavícula , Displasia Cleidocraniana , Fontanelas Cranianas , CrescimentoRESUMO
Fundamento: el uso del ultrasonido en pediatría favorece el diagnóstico primario de algunas enfermedades. El ultrasonido transfontanelar es el más usado para detectar alteraciones intracraneales.Objetivo: identificar tipo de hallazgo ultrasonográfico en niños con fontanela anterior abierta y factores de riesgo asociados. Métodos: estudio descriptivo realizado en el Hospital Pediátrico de Cienfuegos de enero de 2014 a enero de 2015. Se incluyeron todos los pacientes con fontanela anterior abierta e indicación de ultrasonido transfontanelar. Se analizaron: edad del niño, sexo, edad materna, complicaciones del embarazo, tipo de parto, complicaciones al nacimiento, variantes anatómicas intracerebrales y malformaciones intracerebrales. Resultados: se estudiaron 221 pacientes entre uno y 24 meses con una media de cuatro meses; el 59,3 % masculinos; existieron alteraciones ultrasonográficas en el 21,3 % (66 % masculinos). La asimetría ventricular estuvo como variante anatómica más frecuente (6,8 %) seguida de macrocefalia benigna (5,9 %) y cavum septum pellucidum (4,1 %). La principal malformación fue la mega cisterna magna (1,4 %) seguida del quiste del tercer ventrículo (0,9 %) y del quiste subependimario (0, 5 %). El parto distócico y la hipertensión arterial en la madre, la prematuridad y la enfermedad hipóxico isquémica en el niño, fueron los factores de riesgo más observados. Conclusiones: la ultrasonografía cerebral es un método útil, no invasivo y de fácil interpretación para la determinación precoz de entidades nosológicas en el infante, mientras permanece abierta su fontanela anterior. La interacción de factores de riesgo tanto maternos como en el niño incide en la aparición de malformaciones intracerebrales.
Foundation: the use of ultrasound in pediatrics favors the primary diagnosis of some diseases. Trans-fontanel ultrasound is the most used to detect intracranial disturbances. Objective: to identify the type of ultrasound finding in children with open front fontanel and associated risk factors. Methods: decriptive study realized at the Pediatric Hospital of Cienfuegos from January 2014 to January 2015. All patients with open front fontanel and indicated trans-fontanel ultrasound were included. Children´s age and sex were analyzed and mother´s age, pregnancy complications, type of delivery and its complications, anatomic intracerebral variants and malformations as well. Results: 221 patients were studied between 1 and 24 months old with a mean of four months; 59.3% were male; ultrasonography disturbances in 21,3% (66% male). Ventricular Asymmetry was the most frequent anatomic variant. (6.8%) followed by benign macro-cephalic (5.9 %) and cavum septum pellucidum (4,1 %). The main malformation was mega cisterna magna (1,4 %) followed by subependymal cyst (0, 5 %). Dystocic delivery and maternal arterial hypertension, prematurity and hypoxic ischemic disease were the most frequently observed risk factors. Conclusion: brain ultrasonography is a useful, non-invasive method of easy interpretation for the early determination of nosology conditions of children, while the front fontanel is still opened. The interaction of risk factors in the mother so as in the child influence in the appearance of intra-cerebral malformations.
RESUMO
Objective@#To observe the development of the anterior fontanel (AF) in healthy Chinese children from 1 to 36 months, and to assess the relationship between the closure of the AF and physical development in Chinese children.@*Method@#This was a cross-sectional evaluation of the AF in a series of 104 147 healthy children between June 2015 and October 2015 from nine cities in China. The size and closure of AF of the children were measured and recorded, and the age for the closure of AF was calculated using probit analysis. The data in 2015 were compared with the data from the same surveys in 1985, 1995 and 2005 respectively.@*Result@#(1) Totally, 104 147 healthy children (52 216 boys and 51 931 girls; range 1 month to 36 months) from nine cities enrolled in this cross-sectional study. (2)The size of AF gradually decreased with age, and the mean size of AF was 2.0(95% confidence interval (CI)2.0-2.1) cm at the age of 1 month, 0.6(95% CI 0.5-0.6) cm at the ages of 12-14 months, and 0.0(95% CI 0.0-0.0) cm at the ages of 21-23 months, respectively. (3) The percentage for the closure of AF was 0.1% at the age of 3 months, 67.5% at the ages of 15-17 months. The oldestt age for closure was 35 months. The mean age for the closure of AF was 14.5 months (95% CI 14.4-14.6), and the 3rd and 97th centiles of the age for the closure of AF were 6.6 and 22.4 months. (4) Over the past 30 years from 1985 to 2015, no significant change was found regarding the mean age for the closure of AF in children from urban area, contrarily, the mean age was 1.1 months earlier in suburban area. (5) The height and weight of children in the closed AF group were significantly higher than those of children in unclosed AF group(all P<0.01), but no significant difference was found regarding the head circumference between the two groups.@*Conclusion@#The size of AF at 1 month was maximum, then decreases gradually with age, and the mean age for the closure of AF was 14.5 (95% CI 14.4-14.6) months. No significant correlation was found between the development of AF and the head circumference, but there was a positive correlation between the development of AF and the height and weight. There was no significant change regarding the secular trend of the age for the closure of AF.
RESUMO
La neuroecografía está posicionada en la práctica clínica, de acuerdo a la literatura consultada, como un procedimiento con una especificidad y efectividad que permite dar un reporte diagnóstico con seguridad. Esta técnica tiene como ventajas la exploración en tiempo real, el carácter atóxico e inocuo del procedimiento y el corto tiempo en el que se realiza, según la experticia del realizador. Como herramienta diagnóstica en recién nacidos pretérminos una de las principales indicaciones para la solicitud del procedimiento es poder hacer la identificación de las alteraciones visibles en la anatomía macroscópica, teniendo en cuenta las ventajas proporcionadas por la ventana acústica utilizada en el estudio sonográfico, las cuales dependen principalmente de la proximidad del transductor a la neuroanatomía que se desea explorar. [Ustáriz CG, Redondo LC, Avendaño LC, Noguera EC. Ultrasonografía craneal neonatal, revisión de tema. MedUNAB 2012; 15(3): 167-174].
According to the literature, the neurosonography technique is positioned in clinical practice as a procedure with a specificity and effectiveness which allows a safe diagnostic report. This technique has the advantages of real-time scanning, the non-toxic and harmless character of the procedure, and the short time in which is performed according to the expertise of the physician. Used as a diagnostic tool in preterm newborns, one of its most significant applications is the identification of the visible changes in macroscopic anatomy, taking into account the advantages provided by the acoustic window used in the sonographic study, which in turn depends mainly on the proximity of the transducer to the neuroanatomy to be scanned. [Ustáriz CG, Redondo LC, Avendaño LC, Noguera EC. Neonatal cranial ultrasonography. MedUNAB 2012; 15(3):167-174].