Evaluation of functionality-mobility in patients with skeletal dysplasias. Application of the STEMS tool ("everyday symptoms and mobility screening tool for skeletal dysplasias").

Individuals with differing forms of skeletal dysplasias (SD) frequently report impaired mobility and symptoms. With the objetive to evaluate mobility and associated symptoms in people with SD at an Argentinian pediatric hospital, using an Argentinian version of the Screening Tool for Everyday Mobility and Symptoms (STEMS), a simple questionnaire that allows clinicians to quickly identify the presence of symptoms associated with mobility in people with SD, while considering different environmental settings and the use of assistive devices, an analytical study of a consecutive sample of patients older than 5 years with SD and their affected relatives was carried out.Diagnosis, comorbidities, socioenvironmental, therapeutic, auxological and mobility variables were recorded. The presence and intensity of symptoms was noted through use of both the STEMS and validated scales. Descriptive, association and correlation analyzes were performed. One hundred and nineteen individuals with SD were enrolled in the study and divided into groups: Osteogenesis Imperfecta (OI, n = 55), Achondroplasia (ACH, n = 36) and Other SD resulting in disproportionate short stature (n = 28). Mobility assistive devices were almost exclusively used by individuals with OI. They were more frequently used by individuals with overweight and obesity, more severe form of the disease and in the outdoor settings. Two thirds (66.4%) of the individuals assessed in this study reported pain, 87.4% reported fatigue, and 58.8% reported both pain and fatigue. The intensity of symptoms was similar between groups and correlated with age and auxological variables. The STEMS was clear, easy and quick to use for identifying presence of pain and fatigue in this population group. The STEMS proved to be a simple and useful tool for evaluating functional mobility and associated symptoms in our population of individuals with SD.

Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1-related.

The autosomal dominant spondylometaphyseal dysplasia Sutcliff type or corner fracture type FN1-related is characterized by a combination of metaphyseal irregularities simulating fractures ("corner fractures"), developmental coxa vara, and vertebral changes. It is linked to heterozygous mutations in FN1 and COL2A1. Vertebral changes as delayed vertebral ossification, ovoid vertebral bodies, anterior vertebral wedging, and platyspondyly have been observed in this condition, while odontoid abnormalities have not been reported. We report an odontoid anomaly in a girl with SMD-CF FN1-related showing the heterozygous variant c.505T>A; p.(Cys169Ser), presenting at 11.9 years of age with acute quadriparesis. Images showed spinal cord compression and injury associated with os odontoideum and C1-C2 instability. She required decompression and instrumented occipitocervical stabilization, suffering from residual paraparesis. This paper describes the first case of SMD-CF FN1-related accompanied by odontoid anomalies.

Acetabular Protrusion in a Cohort of Patients with Osteogenesis Imperfecta Evaluated in a Pediatric Hospital.

Acetabular protrusion (AP) is present in 33 to 55% of patients with osteogenesis imperfecta (OI). Even though the finding is relatively common, it is poorly described in pediatric patients. The objective of this study was to describe the incidence and associations of AP in pediatric OI patients. We retrospectively and cross-sectionally evaluated clinical histories and radiographic findings of OI patients aged 2 to 19.5 years, recording sex, age, severity, anthropometric measurements, ambulation status, femoral fractures history, and occurrence of orthopaedic surgeries and nephropathy. AP was considered present when the center-edge (CE) angle was more than 35 degrees and the acetabular line crossed the Kohler's line by more than 1 and 3 mm in boys and girls, respectively, and 3 and 6 mm in adult males and females, respectively. The association with risk factors and complications was analyzed through univariate and multivariate logistic regression. A total of 71 children were evaluated. The median age was 8.6 years, and 54.9% of them had moderate to severe forms of OI. In 71.8% of the children, an abnormal CE angle was found, being frequent in mild, moderate, and severe cases. AP was present in 22.5% of all patients and in 41% of children with moderate to severe OI, and was significantly associated with older ages ( p = 0.0062) and nonwalking status ( p = 0.0093). We found a high prevalence of AP in children with moderate to severe forms of OI, which was present even at younger ages. In addition, we found a significant increase in the number of children with abnormal CE angles even in those with mild forms of OI. The presence of AP was associated with the severity of the OI and age, and in a negative association with the ambulatory status.

Skeletal dysplasias in Latin America.

Skeletal dysplasias (SD) are disturbances in growth due to defects intrinsic to the bone and/or cartilage, usually affecting multiple bones and having a progressive character. In this article, we review the state of clinical and research SD resources available in Latin America, including three specific countries (Brazil, Argentina, and Chile), that have established multidisciplinary clinics for the care of these patients. From the epidemiological point of view, the SD prevalence of 3.2 per 10,000 births from nine South American countries included in the ECLAMC network represents the most accurate estimate not just in Latin America, but worldwide. In Brazil, there are currently five groups focused on SD. The data from one of these groups including the website www.ocd.med.br, created to assist in the diagnosis of SD, are highlighted showing that telemedicine for this purpose represents a good strategy for the region. The experience of more than 30 years of the SD multidisciplinary clinic in an Argentinian Hospital is presented, evidencing a solid experience mainly in the follow-up of the most frequent SD, especially those belonging the FGFR3 group and OI. In Chile, a group with 20 years of experience presents its work with geneticists and pediatricians, focusing on diagnostic purposes and clinical management. Altogether, although SD health-care and research activities in Latin America are in their early stages, the experience in these three countries seems promising and stimulating for the region as a whole.

Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.

Hand hyperphalangism leading to shortened index fingers with ulnar deviation, hallux valgus, mild facial dysmorphism and respiratory compromise requiring assisted ventilation are the key features of Chitayat syndrome. This condition results from the recurrent heterozygous missense variant NM_006494.2:c.266A>G; p.(Tyr89Cys) in ERF on chromosome 19q13.2, encoding the ETS2 repressor factor (ERF) protein. The pathomechanism of Chitayat syndrome is unknown. To date, seven individuals with Chitayat syndrome and the recurrent pathogenic ERF variant have been reported in the literature. Here, we describe six additional individuals, among them only one presenting with a history of assisted ventilation, and the remaining presenting with variable pulmonary phenotypes, including one individual without any obvious pulmonary manifestations. Our findings widen the phenotype spectrum caused by the recurrent pathogenic variant in ERF, underline Chitayat syndrome as a cause of isolated skeletal malformations and therefore contribute to the improvement of diagnostic strategies in individuals with hand hyperphalangism.

Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation.

Hypochondroplasia (HCH), a skeletal dysplasia caused by mutations in the fibroblast growth factor receptor 3 ( FGFR3 ) gene, is characterized by disproportionate short stature. The p.Asn540Lys (p.N540K) mutation accounts for ∼50 to 70% of cases of HCH, but novel FGFR3 mutations are described. We present a family with disproportionately short stature and mild radiologic findings seen in a major public pediatric hospital in Argentina. A previously undescribed heterozygous missense variant in FGFR3, NM_000142.4:667C > T; p.(Arg223Cys) was identified. The predicted phenotype correlates well with the mild auxologic and radiologic characteristics observed. In this case, disproportionately short stature raised the suspicion of skeletal dysplasia.

Recomendaciones para el seguimiento de niños con asimetría en la longitud de los miembros inferiores: consenso de expertos / Recommendations for the follow-up of children with leg length discrepancy: expert consensus

La asimetría de la longitud de los miembros inferiores es una afección en la cual la longitud de una pierna difiere de la contralateral, motivo de consulta frecuente en el consultorio del pediatra y del ortopedista infantil. El objetivo de nuestro trabajo fue desarrollar recomendaciones de seguimiento, planificación prequirúrgica y tratamiento de niños con asimetría de la longitud de los miembros inferiores mediante el consenso de expertos. Material y métodos. Se utilizó el método Delphi. Un grupo coordinador seleccionó el panel de expertos, diseñó y analizó cada una de las rondas de consulta. Los cuestionarios semiestructurados fueron enviados por correo electrónico en forma personalizada. Se estableció como criterio de consenso un acuerdo entre los expertos > 80 %. En cada una de las rondas, se reformularon los aspectos no consensuados y se agregaron nuevos sugeridos en la ronda anterior. Se consideró como medida de estabilidad para concluir la consulta cuando más del 70 % de los expertos no modificó su opinión en rondas sucesivas. Resultados. Participaron del consenso 8 expertos en ortopedia y 6 en diagnóstico por imágenes. Luego de 3 rondas de consulta, se logró el consenso en 39 recomendaciones referentes a seguimiento, planificación prequirúrgica y tratamiento. Fueron reagrupadas en 32 recomendaciones finales. Conclusiones. Estas son las primeras recomendaciones para el seguimiento de niños con asimetría de la longitud de los miembros inferiores mediante el consenso de expertos.

Leg length discrepancy is when the length of one leg is different from the other, and is a common reason for consultation at the pediatrician's and pediatric orthopedist's office. The objective of this study was to develop recommendations for the follow-up, pre-surgical planning, and treatment of children with leg length discrepancy based on expert consensus. Material and methods. The Delphi method was used. A coordinating group selected a panel of experts, designed and analyzed each of the rounds of consultations. Semistructured questionnaires were sent by personalized e-mail. Agreement among experts ≥ 80 % was established as the criterion for consensus. At each round of consultation, non-consensual aspects were reformulated and new aspects suggested in the previous round were included. A measure of stability to conclude the consultation was determined when more than 70 % of experts sustained their opinion in successive rounds. Results. Eight experts in orthopedics and six experts in imaging studies participated. After three rounds of consultations, consensus was reached in terms of 39 recommendations for follow-up, pre-surgical planning, and treatment. These were reorganized into 32 final recommendations. Conclusions. These are the first recommendations for the follow-up of children with leg length discrepancy agreed by expert consensus.

Recommendations for the follow-up of children with leg length discrepancy: expert consensus. / Recomendaciones para el seguimiento de niños con asimetría en la longitud de los miembros inferiores: consenso de expertos.

INTRODUCTION: Leg length discrepancy is when the length of one leg is different from the other, and is a common reason for consultation at the pediatrician's and pediatric orthopedist's office. The objective of this study was to develop recommendations for the follow-up, pre-surgical planning, and treatment of children with leg length discrepancy based on expert consensus. MATERIAL AND METHODS: The Delphi method was used. A coordinating group selected a panel of experts, designed and analyzed each of the rounds of consultations. Semistructured questionnaires were sent by personalized e-mail. Agreement among experts > 80 % was established as the criterion for consensus. At each round of consultation, non-consensual aspects were reformulated and new aspects suggested in the previous round were included. A measure of stability to conclude the consultation was determined when more than 70 % of experts sustained their opinion in successive rounds. RESULTS: Eight experts in orthopedics and six experts in imaging studies participated. After three rounds of consultations, consensus was reached in terms of 39 recommendations for follow-up, pre-surgical planning, and treatment. These were reorganized into 32 final recommendations. CONCLUSIONS: These are the first recommendations for the follow-up of children with leg length discrepancy agreed by expert consensus.

La asimetría de la longitud de los miembros inferiores es una afección en la cual la longitud de una pierna difiere de la contralateral, motivo de consulta frecuente en el consultorio del pediatra y del ortopedista infantil. El objetivo de nuestro trabajo fue desarrollar recomendaciones de seguimiento, planificación prequirúrgica y tratamiento de niños con asimetría de la longitud de los miembros inferiores mediante el consenso de expertos. Material y métodos. Se utilizó el método Delphi. Un grupo coordinador seleccionó el panel de expertos, diseñó y analizó cada una de las rondas de consulta. Los cuestionarios semiestructurados fueron enviados por correo electrónico en forma personalizada. Se estableció como criterio de consenso un acuerdo entre los expertos > 80 %. En cada una de las rondas, se reformularon los aspectos no consensuados y se agregaron nuevos sugeridos en la ronda anterior. Se consideró como medida de estabilidad para concluir la consulta cuando más del 70 % de los expertos no modificó su opinión en rondas sucesivas. Resultados. Participaron del consenso 8 expertos en ortopedia y 6 en diagnóstico por imágenes. Luego de 3 rondas de consulta, se logró el consenso en 39 recomendaciones referentes a seguimiento, planificación prequirúrgica y tratamiento. Fueron reagrupadas en 32 recomendaciones finales. Conclusiones. Estas son las primeras recomendaciones para el seguimiento de niños con asimetría de la longitud de los miembros inferiores mediante el consenso de expertos.

Predicción de estatura e índice de masa corporal a partir de segmentos corporales: Utilización de las ecuaciones de Gauld en una muestra argentina / Prediction of height and body mass index based on body segments: Use of Gauld's equations in an Argentine sample

En niños que, por su condición, la estatura no se puede medir o no representa el crecimiento óseo real, puede recurrirse a su cálculo a partir de la medición de segmentos corporales. Objetivos. 1. Comparar el valor de la estatura observada (EO) y predicha (EP) a partir de segmentos corporales mediante las ecuaciones de Gauld et al. 2. Analizar la aplicabilidad en el cálculo e interpretación del índice de masa corporal (IMC). Materiales y métodos. Muestra de niños y adolescentes sin alteraciones músculo-esqueléticas. Se registró estatura, envergadura, longitud del cúbito, antebrazo, tibia, altura de la pierna, peso y desarrollo puberal. Se calculó el IMC. Se analizaron diferencias y concordancias entre EO y EP mediante Bland-Altman y coeficiente de correlación intraclase. Para el IMC, se calculó el error de predicción absoluto y la concordancia mediante coeficiente kappa. Resultados. Se incluyeron 220 niños y adolescentes entre 6,04 y 19,1 años. El coeficiente de correlación intraclase entre EP y EO fue > 0,9 en todas las ecuaciones. La EP sobreestimó en promedio la EO en menos de 2,0 cm, excepto al utilizar la medición del cúbito (2,6 cm en mujeres y 3,4 cm en varones). El promedio del error de predicción absoluto para IMC fue < 5 %, excepto para el cúbito y el coeficiente kappa fue > 0,7. Conclusiones. En nuestra muestra, las ecuaciones de Gauld et al. fueron adecuadas para predecir la estatura y calcular el IMC. La mayor diferencia entre EO y EP fue al utilizar la longitud del cúbito.

When height cannot be measured or does not account for actual bone growth in children, due to their condition, it may be estimated using equations based on body segments. Objectives. 1. To compare observed height (OH) and predicted height (PH) based on body segments using the equations of Gauld et al. 2. To analyze its applicability in the estimation and interpretation of body mass index (BMI). Materials and methods. A sample of children and adolescents without musculoskeletal alterations. Height, arm span, length of the ulna, the forearm, the tibia and the leg, weight, and pubertal development were registered. BMI was estimated. Differences and agreements between OH and PH were analyzed using the Bland-Altman method and an intraclass correlation coefficient. For BMI, the absolute prediction error and agreement were estimated using a Kappa coefficient. Results. Two hundred and twenty children and adolescents aged 6.04-19.1 years were included. The intraclass correlation coefficient between PH and OH was > 0.9 in all equations. In average, PH overestimated OH by less than 2.0 cm, except when using the ulna length (2.6 cm among girls and 3.4 cm among boys). The average absolute prediction error for BMI was < 5 %, except for the ulna length, and the Kappa coefficient was > 0.7. Conclusions. In our sample, the equations of Gauld et al. were adequate to predict height and estimate BMI. The greatest difference between observed height and predicted height was observed when using the ulna length.

Prediction of height and body mass index based on body segments: Use of Gauld's equations in an Argentine sample. / Predicción de estatura e índice de masa corporal a partir de segmentos corporales: Utilización de las ecuaciones de Gauld en una muestra argentina.

INTRODUCTION: When height cannot be measured or does not account for actual bone growth in children, due to their condition, it may be estimated using equations based on body segments. OBJETIVES: 1. To compare observed height (OH) and predicted height (PH) based on body segments using the equations of Gauld et al. 2. To analyze its applicability in the estimation and interpretation of body mass index (BMI). Materials and methods: A sample of children and adolescents without musculoskeletal alterations. Height, arm span, length of the ulna, the forearm, the tibia and the leg, weight, and pubertal development were registered. BMI was estimated. Differences and agreements between OH and PH were analyzed using the Bland-Altman method and an intraclass correlation coefficient. For BMI, the absolute prediction error and agreement were estimated using a Kappa coefficient. RESULTS: Two hundred and twenty children and adolescents aged 6.04-19.1 years were included. The intraclass correlation coefficient between PH and OH was > 0.9 in all equations. In average, PH overestimated OH by less than 2.0 cm, except when using the ulna length (2.6 cm among girls and 3.4 m among boys). The average absolute prediction error for BMI was < 5 %, except for the ulna length, and the Kappa coefficient was > 0.7. CONCLUSIONS: In our sample, the equations of Gauld et al. were adequate to predict height and estimate BMI. The greatest difference between observed height and predicted height was observed when using the ulna length.

En niños que, por su condición, la estatura no se puede medir o no representa el crecimiento óseo real, puede recurrirse a su cálculo a partir de la medición de segmentos corporales. Objetivos. 1. Comparar el valor de la estatura observada (EO) y predicha (EP) a partir de segmentos corporales mediante las ecuaciones de Gauld et al. 2. Analizar la aplicabilidad en el cálculo e interpretación del índice de masa corporal (IMC). Materiales y métodos. Muestra de niños y adolescentes sin alteraciones músculo-esqueléticas. Se registró estatura, envergadura, longitud del cúbito, antebrazo, tibia, altura de la pierna, peso y desarrollo puberal. Se calculó el IMC. Se analizaron diferencias y concordancias entre EO y EP mediante Bland-Altman y coeficiente de correlación intraclase. Para el IMC, se calculó el error de predicción absoluto y la concordancia mediante coeficiente kappa. Resultados. Se incluyeron 220 niños y adolescentes entre 6,04 y 19,1 años. El coeficiente de correlación intraclase entre EP y EO fue > 0,9 en todas las ecuaciones. La EP sobreestimó en promedio la EO en menos de 2,0 cm, excepto al utilizar la medición del cúbito (2,6 cm en mujeres y 3,4 cm en varones). El promedio del error de predicción absoluto para IMC fue < 5 %, excepto para el cúbito y el coeficiente kappa fue > 0,7. Conclusiones. En nuestra muestra, las ecuaciones de Gauld et al. fueron adecuadas para predecir la estatura y calcular el IMC. La mayor diferencia entre EO y EP fue al utilizar la longitud del cúbito.

Características clínicas, radiológicas y auxológicas de pacientes con displasia cleidocraneal seguidos en un hospital pediátrico de referencia en Argentina / Clinical, radiological, and auxological characteristics of patients with cleidocranial dysplasia followed in a pediatric referral hospital in Argentina

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.

Clinical, radiological, and auxological characteristics of patients with cleidocranial dysplasia followed in a pediatric referral hospital in Argentina. / Características clínicas, radiológicas y auxológicas de pacientes con displasia cleidocraneal seguidos en un hospital pediátrico de referencia en Argentina.

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.

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.

Leg length, sitting height, and body proportions references for achondroplasia: New tools for monitoring growth.

Achondroplasia is the most common form of inherited disproportionate short stature. We report leg length, sitting height, and body proportion curves for achondroplasia. Seven centile format of sitting height, leg length, sitting height/leg length ratio, sitting height/height ratio, and head circumference/height ratio were estimated by the LMS method. The Q-test was applied to assess the goodness of fit. For comparison, centiles of sitting height and leg length were graphed using Argentine national growth references for achondroplasia and non-achondroplasia populations. The sample consisted of 342 children with achondroplasia (171 males, 171 females) aged 0-18 years. The median (interquartile range) number of measurements per child was 6 (3, 12) for sitting height and 8 (3, 13) for head circumference. Median leg length increased from 14 cm at age 1 week to 44 and 40 cm (males and females, respectively) in achondroplasia adolescents which is 3.5 cm shorter than non-achondroplasia children at age 1 week and, 38 cm shorter at adolescence. Median sitting height increased from 34 cm at birth to 86 and 81 in adolescents' boys and girls respectively, only 5 cm shorter than non-achondroplasia children. Sitting height/leg length decreased from 2.61 at birth to approximately 1.90 at adolescent. Median head circumference/height ratio decreased from 0.79 at birth to 0.46 at 18 years in both sexes. Growth of lower limbs is affected early in life and becomes more noticeable throughout childhood. The disharmonic growth between the less affected trunk and the severely affected limbs determine body disproportion in achondroplasia.

Asimetría de miembros inferiores: resultados posteriores a epifisiodesis definitiva en la adultez en un hospital pediátrico de alta complejidad / Lower limb asymmetry: results after definitive epiphysiodesis at skeletal maturity in a high complexity paediatric hospital

Introducción En nuestro centro, el tratamiento quirúrgico más utilizado en niños con asimetría de longitud de miembros inferiores es la epifisiodesis definitiva percutánea. El objetivo del estudio es describir los resultados hasta la madurez esquelética y las complicaciones en niños con asimetría de miembros inferiores, tratados con epifisiodesis definitiva, en un hospital de pediatría de alta complejidad desde el año 1993, así como analizar variables relacionadas con el porcentaje de corrección. Materiales y métodos Es un estudio descriptivo y retrospectivo por revisión radiológica e historias clínicas. Se incluyó a todos los pacientes con diagnóstico de asimetría de miembros inferiores posterior a epifisiodesis definitiva como único tratamiento con radiografía hasta la madurez esquelética. Se realizó análisis descriptivo y análisis de regresión entre el porcentaje de corrección (AI ­ AF/AI) y las variables predictoras de sexo, etiología, asimetría inicial, predicha y en la adultez, edad de inicio del seguimiento y quirúrgica, método de predicción y desarrollo puberal. Se analizaron las complicaciones. Resultados 29 pacientes; 16 varones, y 21 congénitas. Mediana de edad a la cirugía: 12,1 (r: 10,8-13,6) y 13,7 (r: 11,4-15,2) años en mujeres y varones, respectivamente. La asimetría en la adultez fue inferior a 2 cm en el 69%. El rango del porcentaje de corrección fue del 2,6 al 106,5%, lo que se asoció negativamente a la pubertad avanzada (coeficiente: -23,9; p = 0,025) y positivamente a Moseley (coeficiente: 38,9; p = 0,056). Complicaciones: alteración del eje en zona 1 (10%). Discusión La epifisiodesis definitiva percutánea fue una herramienta eficaz y segura para el tratamiento de asimetrías de longitud de miembros inferiores en nuestros pacientes. Hacemos hincapié en la evaluación del desarrollo puberal durante el seguimiento para optimizar los resultados en la adultez. Nivel de evidencia clínica Nivel IV.

Background The most used surgical treatment in children with leg length discrepancy is permanent percutaneous epiphysiodesis. The purpose of this study is to describe the results at skeletal maturity, as well as the complications in children with leg length asymmetry treated with permanent epiphysiodesis, in a high complexity paediatric hospital since 1993, and to analyse the variables related to the percentage of correction. Materials and methods Descriptive, retrospective study, including a review of clinical and radiological records. The study included all patients with a diagnosis of lower limb asymmetry, and who had permanent epiphysiodesis as only treatment, as well as an x-ray at skeletal maturity. A descriptive analysis and a regression analysis were performed between the percentage of correction and predictor variables, gender, aetiology, initial and predicted asymmetry, and at adulthood, method of prediction, and pubertal development. Complications were analysed. Results The study included 29 patients, of which 16 were boys, and 21 were congenital. The median age at surgery was 12.1 (range: 10.8-13.6) and 13.7 (range: 11.4-15.2) years in females and males, respectively. Asymmetry at adulthood was less than 2 cm in 69% of cases. The range of the correction percentage was 2.6 to 106.5%, being associated negatively to the presence of advanced puberty (Coeff= -23.9; P=.025) and positively associated with Moseley (Coeff= 38.9; P=.056). The complications included angular deformity in zone 1 (10%). Discussion Permanent percutaneous epiphysiodesis was an effective and safe tool for the treatment of leg length discrepancy in our patients. Emphasis is placed on the evaluation of pubertal development during follow-up in order to optimise results at adulthood. Level of evidence IV.

Evolución clínica, radiológica y auxológica a largo plazo de 8 niños con displasia torácica asfixiante / Clinical, radiological and auxologic long-term evolution of 8 children with asphyxiating thoracic dysplasia

La displasia torácica asfixiante es una enfermedad infrecuente con compromiso multiorgánico y alta letalidad neonatal. Se presenta conbaja estatura, miembros cortos, tórax estrecho. Con la edad, hay mejoría respiratoria, pero aparición de compromiso renal, hepático, pancreático y/o retinal. Objetivo: Describir la evolución a largo plazo de 8 pacientes de un hospital de pediatría. Métodos: Se evaluaron retrospectivamente edad de diagnóstico, sexo, variables antropométricas, complicaciones y radiología. Resultados: Masculino/femenino, 6/2. Edad al momento del diagnóstico mediana: 2,54 años. Evolución: 8/8, compromiso respiratorio; 3/8, renal; 2/8, hepático; 1/8, oftalmológico; 1/8, cardíaco. Mediana de estatura al momento del diagnóstico: -1,76 DE; crecimiento posnatal y proporciones corporales, normales. Radiología: 8/8, tórax estrecho y braquifalangia en manos. 5/8, anomalías acetabulares. Discusión: Es recomendable un seguimiento para monitorear la función renal, hepática y ocular. El pediatra debería sospechar esta entidad ante un recién nacido con tórax estrecho y dificultad respiratoria.

Asphyxiating Thoracic Dysplasia is an uncommon condition with multiple organ afectation and high neonatal mortality. It presents with short stature, short extremities, narrow thorax. With growth, there is respiratory improvement, but emergence of renal, hepatic, pancreatic and/or retinal impairment. Objective: to describe the long-term evolution of 8 patients of a pediatric hospital. Methods: we retrospectively evaluated age at diagnosis, sex, anthropometric variables, complications and radiology. Results: male/female 6/2. Median age at diagnosis: 2.54 years. Evolution: 8/8 respiratory compromise, 3/8 kidney, liver 2/8, 1/8 ophthalmologic, cardiac 1/8. Median height at diagnosis -1.76 DS, normal postnatal growth and body proportions. Radiology: 8/8 narrow chest and brachyphalangia in hands. 5/8 acetabular abnormalities. Discussion: for surveillance it is recommended to monitor renal, liver and eye function. The pediatrician should suspect this entity in a newborn with narrow thorax and respiratory distress.

[Clinical, radiological and auxologic long-term evolution of 8 children with asphyxiating thoracic dysplasia]. / Evolución clínica, radiológica y auxológica a largo plazo de 8 niños con displasia torácica asfixiante.

UNLABELLED: Asphyxiating thoracic dysplasia is an uncommon condition with multiple organ affectation and high neonatal mortality. It presents with short stature, short extremities, narrow thorax. With growth, there is respiratory improvement, but emergence of renal, hepatic, pancreatic and/or retinal impairment. OBJECTIVE: to describe the long-term evolution of 8 patients of a pediatric hospital. METHODS: we retrospectively evaluated age at diagnosis, sex, anthropometric variables, complications and radiology. RESULTS: male/female 6/2. Median age at diagnosis: 2.54 years. EVOLUTION: 8/8 respiratory compromise, 3/8 kidney, liver 2/8, 1/8 ophthalmologic, cardiac 1/8. Median height at diagnosis -1.76 DS, normal postnatal growth and body proportions. Radiology: 8/8 narrow chest and brachyphalangia in hands. 5/8 acetabular abnormalities. DISCUSSION: for surveillance it is recommended to monitor renal, liver and eye function. The pediatrician should suspect this entity in a newborn with narrow thorax and respiratory distress.