Acondroplasia severa con retraso del desarrollo y acantosis nigricans (SADDAN) / Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN)

RESUMEN La acondroplasia severa con retraso del desarrollo y acantosis nigricans (SADDAN) es una rara y letal displasia esquelética. Presentamos el primer caso detectado en Perú, en un infante de 13 meses con características fenotípicas de macrocefalia relativa, tórax estrecho, extremidades micromélicas y piel en acordeón; asimismo, un marcado retraso del desarrollo psicomotor en todos los hitos (prueba peruana) y acantosis nigricans. El paciente tuvo mala evolución clínica caracterizada por crisis convulsivas recurrentes, dificultad respiratoria progresiva, y falleció por insuficiencia respiratoria concomitante a neumonía. Esta entidad requiere del acceso a exámenes específicos como el panel de displasias esqueléticas, la cual no es parte de la oferta en la mayoría de los hospitales del Perú. Se requiere una mayor atención las enfermedades raras, a fin de proveer diagnósticos e información oportuna a los involucrados.

ABSTRACT Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a rare and lethal skeletal dysplasia. We present the first case detected in Peru, in a 13-month-old infant with phenotypic characteristics of relative macrocephaly, narrow thorax, micromelic extremities and accordion skin; likewise, a marked delay in psychomotor development in all milestones (Peruvian test), and acanthosis nigricans. The patient had a poor clinical evolution characterized by recurrent seizures, progressive respiratory difficulty, dying from respiratory failure concomitant to pneumonia. This entity requires access to specific exams such as the skeletal dysplasia panel, which is not part of the offering in most hospitals in Peru. Greater attention is required for rare diseases, to provide timely diagnoses and information to those involved.

Mamoplastia de reducción y medialización del complejo areola-pezón en paciente acondroplásica con gigantomastia. Caso clínico / Reduction mammoplasty and nipple medialization in achondroplasic patient with gigantomastia. Case report

La acondroplasia es una enfermedad genética rara que representa la forma más común de enanismo de extremidades cortas. Existen pocos casos reportados de gigantomastia y subsecuente cirugía mamaria en esta población. Presentamos el caso de una paciente con acondroplasia, gigantomastia y medialización de pezón que requirió mamoplastia reductora y reposición de complejo areola pezón (CAP). Se utilizó la técnica de T invertida con pedículo inferior. La planeación quirúrgica y el correcto marcaje en pacientes acondroplásicos son pasos importantes para una cirugía exitosa teniendo en cuenta que las referencias anatómicas habituales no son guías confiables para un posicionamiento ideal de la mama en el tórax o del CAP en la mama. (AU)

Achondroplasia is a rare genetic disease representing the most common form of short-limb dwarfism, and there are a few case reports of gigantomastia and subsequent breast surgery in this patient population. We present the case of a patient with achondroplasia, gigantomastia and nipple medialization who required a reduction mammaplasty and reposition of the nipple areola complex (NAC). An inverted T technique with an inferior pedicle was used. Surgical planning and correct marking in achondroplasic patients are important steps for a successful surgery considering that common anatomical landmarks are not a reliable guide for ideally positioning the breast on the thoracic wall or the NAC on the breast. (AU)

Acondroplasia: actualización en diagnóstico, seguimiento y tratamiento / Achondroplasia: Update on diagnosis, follow-up and treatment

La acondroplasia requiere un seguimiento multidisciplinario, con el objetivo de prevenir y manejar las complicaciones, mejorar la calidad de vida y favorecer su independencia e inclusión social. Esta revisión se justifica por las múltiples publicaciones generadas en los últimos años que han llevado a cabo un cambio en su gestión. Se han desarrollado diferentes guías y recomendaciones, entre las que destacan la realizada por la Academia Americana de Pediatría en 2005 recientemente actualizada (2020), la guía japonesa (2020), el primer Consenso Europeo (2021) y el Consenso Internacional sobre el diagnóstico, abordaje, enfoque multidisciplinario y manejo de individuos con acondroplasia a lo largo de la vida (2021). Sin embargo, y a pesar de estas recomendaciones, actualmente existe una gran variabilidad a nivel mundial en el manejo de las personas con acondroplasia, con consecuencias médicas, funcionales y psicosociales en los pacientes y sus familias. Por ello, es fundamental integrar estas recomendaciones en la práctica clínica diaria, teniendo en cuenta la situación particular de cada sistema sanitario. (AU)

Achondroplasia requieres a multidisciplinary follow-up, with the aim of preventing and managing complications, improving the quality of life and favoring their independence and social inclusion. This review is justified by the multiple publications generated in recent years that have carried out a change in its management. Different guidelines and recommendations have been developed, among which the one made by the American Academy of Pediatrics in 2005 recently updated (2020), the Japanese guide (2020), the first European Consensus (2021) and the International Consensus on the diagnosis, approach multidisciplinary approach and management of individuals with achondroplasia throughout life (2021). However, and despite these recommendations, there is currently a great worldwide variability in the management of people with achondroplasia, with medical, functional and psychosocial consequences in patients and their families. Therefore, it is essential to integrate these recommendations into daily clinical practice, taking into account the particular situation of each health system. (AU)

Achondroplasia: Update on diagnosis, follow-up and treatment.

Achondroplasia requieres multidisciplinary follow-up, with the aim of preventing and managing complications, improving the quality of life of people who suffer from it and favoring their independence and social inclusion. This review is justified by the multiple publications generated in recent years that have carried out a change in its management. Different guidelines and recommendations have been developed, among which the one made by the American Academy of Pediatrics in 2005 recently updated (2020), the Japanese guide (2020), the first European Consensus (2021) and the International Consensus on the diagnosis, approach multidisciplinary approach and management of individuals with achondroplasia throughout life (2021). However, and despite these recommendations, there is currently a great worldwide variability in the management of people with achondroplasia, with medical, functional and psychosocial consequences in patients and their families. Therefore, it is essential to integrate these recommendations into daily clinical practice, taking into account the particular situation of each health system.

Artroplastia de rodilla asistida por ordenador en paciente con acondroplasia: caso clínico / Computer assisted knee arthroplasty in patient with achondroplasia: case report

La acondroplasia es una de las displasias óseas más frecuentes. Los pacientes acondroplásicos presentan grandes deformidades y alteraciones anatómicas en los miembros inferiores, con laxitud ligamentosa y una tasa superior de complicaciones perioperatorias, motivo por el que la cirugía de rodilla en estos pacientes supone un reto para el cirujano ortopédico. El objetivo de este trabajo es exponer los beneficios de la artroplastia de rodilla asistida por ordenador en pacientes con displasia ósea a través de un caso clínico. (AU)

Achondroplasia is one of the most common bones dysplasia’s. Achondroplastic patients present great deformities and anatomical alterations in the lower limbs, with ligamentous laxity and a higher rate of perioperative complications, which is why knee surgery in these patients is a challenge for the orthopaedic surgeon. The aim of this work is to expose the benefits of computer-navegated knee arthroplasty in patients with bone dysplasia through a case report. (AU)

Physical therapy treatment in a para-powerlifting and para-swimming athlete with achondroplasia. case report

ABSTRACT Introduction: Achondroplasia is an autoso-mal dominant congenital condition caused by a mutation of the fibroblast growth encoding gene, which affects endochondral ossification. It is the most common cause of disproportionate short stature, generating physical disability. In the presence of disability, adapted sport emerges as a strategy designed to generate inclusion and, thereby, improve the quality of life of disabled people. The aim was to develop a physical therapy plan that included recommendations to minimize the risk of injury and prevent loss of functionality as a consequence of sports practice. Case presentation: This is the case of a 27-year-old Colombian athlete diagnosed with achondroplasia who competes in the para-powerlifting and swimming modalities. Physiotherapeutic and physical fitness evaluations were carried out, finding obesity and postural and gait pattern alterations. The available literature does not recommend practicing these sports in this type of patient; however, a training program and recommendations were designed to preserve her functionality and improve her sports performance. The plan was put into practice and tolerated adequately by the athlete. Conclusions: Training plans that promote the maintenance of optimal physical condition in adapted sports participants allow them to continue practicing their sport without compromising their life expectancy or functionality. The analysis of the present case illustrates how physical therapists play a key role in this population to minimize the possible complications derived from training and competitions.

RESUMEN Introducción. La acondroplasia es una condición congênita causada por una mutación del gen codificador de crecimiento del fibroblasto que afecta la osificación endocondral y genera discapacidad estructural; además, es la causa más común de talla baja desproporcionada. Por su parte, el deporte adaptado es una disciplina deportiva que se ajusta al colectivo de personas con discapacidad y una estrategia diseñada para generar inclusión y mejorar la calidad de vida de sus participantes. Se presenta el caso de una paciente con acondroplasia a quien se le diseñó un plan fisioterapéutico de intervención enfocado a minimizar el riesgo de lesiones y prevenir la pérdida de funcionalidad como consecuencia de la práctica deportiva. Presentación del caso. Paciente femenina de 27 años diagnosticada con acondroplasia y practicante de levantamiento de potencia adaptado y natación paralímpica, a quien mediante valoración fisioterapéutica y de la aptitud física se le encontraron alteraciones posturales y en el patrón de marcha. Dado que por su condición de base no es recomendable que practique los deportes en los cuales compite, se le diseñó un programa de entrenamiento y recomendaciones dirigido a preservar su funcionalidad y mejorar su desempeño en la práctica deportiva. El plan fue puesto en práctica y tolerado de forma adecuada por la deportista. Conclusiones. Los planes de entrenamiento que favorezcan el mantenimiento de la condición física óptima de los participantes de deportes adaptados les permiten a estos deportistas realizar su práctica sin afectar su expectativa de vida ni su funcionalidad. El análisis del presente caso muestra cómo el fisioterapeuta desempeña un rol importante en esta población, pues los puede ayudar a disminuir las posibles complicaciones que se deriven de entrenamientos y competencias.

Spinal anesthesia for cesarean section in a patient with achondroplasia: case report / Anestesia espinal para cesárea segmentaria en paciente con acondroplasia: reporte de caso

Abstract Introduction: The perioperative management of achondroplastic pregnant patients that will undergo lower segment cesarean section represents a clinical challenge to the anesthesiologist. Objective: To describe the anesthetic management of a pregnant patient with achondroplasia, programed for lower segment cesarean section using single-dose regional subarachnoid anesthesia, and to review the general guidelines for anesthetic management emphasizing the role of anesthesia in these patients. Methods: Case report and subject review. Results: The case of a first pregnancy in an achondroplastic, 117-cm tall patient and 38.5 weeks of gestation, programed for lower segment cesarean section is discussed. The patient received single-dose subarachnoid regional anesthesia and adjuvant opioids, with satisfactory results. Conclusion: The ideal anesthetic technique is controversial and the decision shall be based on the individual patient characteristics. The spinal technique, as the anesthetic approach to lower segment cesarean section, was satisfactory and safe in this particular patient.

Resumen Introducción: El manejo perioperatorio de pacientes acondroplásicas embarazadas que van ser llevadas a cesárea segmentaria representa un reto clínico para el anestesiólogo. Objetivo: Describir el manejo anestésico de una paciente gestante con acondroplasia programada para cesárea segmentaria utilizando anestesia regional subaracnoidea con dosis unica y realizar una revisión acerca de las pautas generales del manejo anestésico destacando el papel de la anestesia regional en este tipo de pacientes. Métodos: Reporte de caso y revisión de tema. Resultados: Presentamos el caso de una primigestante acondroplásica de 38.5 semanas y altura de 117 cm programada para cesárea segmentaria a la que se realizó una técnica anestésica regional tipo subaracnoidea con dosis única de anestésico local más coadyuvante opioide con resultados satisfactorios. Conclusiones: La técnica anestésica ideal para emplear es controversial y debe ser decidido con base en las características individuales de cada paciente. La técnica espinal fue satisfactoria y segura en esta paciente en particular como técnica anestésica para cesárea segmentaría.

Estenosis acueductal en acondroplasia: a propósito de un caso / Aqueductal Stenosis in Achondroplasia: a Clinical Case Report

Resumen: La acondroplasia es la condición asociada a talla baja desproporcionada más frecuente, caracterizada por un crecimiento óseo anormal, que resulta en talla baja con extremidades cortas e inteligencia normal. Una de las complicaciones más habituales es la compresión medular, que puede ocurrir a cualquier nivel, siendo más frecuente en la unión cráneo cervical, generando alta morbimortalidad en los primeros años de vida, principalmente por muerte súbita. Presentamos una paciente de 1 año 10 meses con diagnóstico precoz de acondroplasia, que presentó en su evolución estenosis acueductal con compresión medular, sintomática, pesquisada en control rutinario, que requirió cirugía descompresiva con buena evolución posterior. Palabras clave: Acondroplasia, estenosis acueductal, compresión medular sintomática, hidrocefalia, craniectomía suboccip

Achondroplasia is the most frequent cause of disproportionate short stature, it is characterized by abnormal growth of long bones, rendering a short-limbed individual of normal intelligence. A serious potential complication is spinal compression, which can happen at any level but is particularly common at the craniocervical junction. It can cause important morbidity during the first few years of life, including sudden death. We present a 22-monthold patient diagnosed with achondroplasia, who developed aqueductal stenosis with symptomatic spinal cord compression, diagnosed during a routine consultation, requiring decompressive surgery with excellent results. Key words: Achondroplasia, aqueductal stenosis, symptomatic spinal cord compression, hydrocephalus, suboccipital craniectomy.

[Obstructive sleep apnea-hypopnea syndrome in children: beyond adenotonsillar hypertrophy]. / Síndrome de la apnea-hipoapnea obstructiva del sueño en el niño: más allá de la hipertrofia adenoamigdalar.

The prevalence of obstructive sleep apnea-hypopnea syndrome in the general childhood population is 1-2% and the most common cause is adenotonsillar hypertrophy. However, beyond adenotonsillar hypertrophy, there are other highly prevalent causes of this syndrome in children. The causes are often multifactorial and include muscular hypotonia, dentofacial abnormalities, soft tissue hypertrophy of the airway, and neurological disorders). Collaboration between different specialties involved in the care of these children is essential, given the wide variability of conditions and how frequently different factors are involved in their genesis, as well as the different treatments to be applied. We carried out a wide literature review of other causes of obstructive sleep apnea-hypopnea syndrome in children, beyond adenotonsillar hypertrophy. We organised the prevalence of this syndrome in each pathology and the reasons that cause it, as well as their interactions and management, in a consistent manner.

[Advances in bone dysplasias]. / Novedades en displasias óseas.

The prevalence of bone dysplasias is estimated to be one case per 1,000 inhabitants, which suggests that, at some point in the career of an orthopaedic surgeon, he will face with one of these patients. The aim of this paper is to review the general aspects of bone dysplasias and focus on those, which due to their frequency and importance, we consider most relevant (achondroplasia, multiple epiphyseal dysplasia, spondyloepiphyseal dysplasia, osteogenesis imperfecta), reviewing their fundamental features and the latest therapeutic advances. There is no cure for these diseases, so early diagnosis and appropriate therapeutic management, becomes the key to improving quality of life of these patients.

Acondroplasia: diagnóstico clínico precoce / Achondroplasia: early clinical diagnosis

A acondroplasia é uma síndrome genética que afetaa ossificação endocondral, sendo uma das causas denanismo. Acomete um recém-nascido em cada oitoa dez mil nascimentos. Embora o defeito genéticotenha caráter autossômico dominante, cerca de 85%dos casos resultam de novas mutações. Os portadoresda acondroplasia apresentam características clínicastípicas como macrocefalia, baixa estatura, membroscurtos com predomínio do segmento proximal e limitaçãoda extensão dos cotovelos. Entretanto, essascaracterísticas clínicas no período neonatal podempassar despercebidas dos pais e pediatras, uma vezque os recém-nascidos normais apresentam os membroscurtos em relação ao tronco, o que dificulta aobservação dessa desproporção. No presente estudode caso, registra-se um caso típico de acondroplasiadiagnosticado imediatamente após o nascimento.

Achondroplasia is a genetic syndrome that affects the endochondralossification, being one of the causes of dwarfism.It affects one newborn in every 8 to 10 thousandbirths. Although the genetic defect is of autosomal dominantorigin, about 85% of cases result from new mutations.The typical clinical features of achondroplasia are macrocephaly,short stature, short limbs with predominanceof the proximal segment and limitation of elbow extension.However, these clinical features may go unnoticedin the neonatal period, since newborns? limbs are shorterin relation to the trunk, making it difficult for parents andpediatricians to notice this disproportion. This case reportdescribes a typical case of achondroplasia diagnosed immediatelyafter birth.

Analysis of the cephalometric pattern of Brazilian achondroplastic adult subjects

OBJECTIVE: The aim of this study was to assess the position of the cranial base, maxilla, and mandible of Brazilian achondroplastic adult subjects through cephalometric measurements of the cranio-dento-facial complex, and to compare the results to normal patterns established in literature. METHODS: Fourteen achondroplastic adult subjects were evaluated based on their radiographic cephalometric measurements, which were obtained using the tracings proposed by Downs, Steinner, Bjork, Ricketts and McNamara. Statistical comparison of the means was performed with Student's t test. RESULTS: When compared to normal patterns, the cranial base presented a smaller size in both its anterior and posterior portions, the cranial base angle was acute and there was an anterior projection of the porion; the maxilla was found to be smaller in size in both the anteroposterior and transversal directions, it was inclined anteriorly with anterior vertical excess, and retropositioned in relation to the cranial base and to the mandible; the mandible presented a normal-sized ramus, a decreased body and transverse dimension, a tendency towards vertical growth and clockwise rotation, and it was slightly protruded in relation to the cranial base and maxilla. CONCLUSION: Although we observed wide individual variation in some parameters, it was possible to identify significant differences responsible for the phenotypical characteristics of achondroplastic patients.

OBJETIVO: avaliar o tamanho e o posicionamento da base do crânio, da maxila e da mandíbula de indivíduos acondroplásicos brasileiros adultos, a partir de medidas cefalométricas do complexo dentoesqueletofacial. Confrontar os dados obtidos aos padrões de normalidade estabelecidos na literatura. MÉTODOS: foram avaliados 14 indivíduos acondroplásicos adultos, utilizando algumas grandezas cefalométricas radiográficas obtidas a partir dos traçados preconizados por Downs, Steinner, Björk, Ricketts e McNamara. Para análise estatística, foi aplicado o teste t de Student na comparação de médias. RESULTADOS: em relação aos padrões de normalidade estabelecidos, a base craniana apresentou dimensões diminuídas, tanto na porção anterior quanto na posterior. O ângulo da base craniana apresentou-se agudo e houve projeção anterior do pório. A maxila apresentou dimensões menores no sentido anteroposterior e transversal, anteroinclinada, excesso vertical anterior e retroposicionada em relação à base do crânio e da mandíbula. A mandíbula apresentou ramos com dimensão normal e redução nas dimensões do corpo e transversal, tendência de crescimento vertical e rotação no sentido horário, discretamente protruída em relação à base do crânio e da maxila. CONCLUSÃO: ainda que tenha sido observada ampla variação individual em alguns dos parâmetros, foi possível identificar diferenças significativas responsáveis pela apresentação fenotípica característica dos pacientes acondroplásicos.

Anestesia para cesárea en paciente con acondroplasia / Anesthesia for cesarean section in a patient with achondroplasia

Introducción: En gestantes acondroplásicas se recomienda el parto por cesárea con anestesia general; sin embargo, recientemente se ha reportado el uso de técnicas conductivas con resultados adecuados. Objetivo:Describir el manejo anestésico de una paciente con acondroplasia programada para cesárea utilizando anestesia combinada espinal-epidural. Métodos y resultados:Mostramos el caso de una primigestante acondroplásica con 110 cm de estatura y embarazo de 37 semanas, en quien se realizó cesárea con anestesia conductiva guiada por ecografía, empleando una mezcla titulada de anestésico local y opiáceo, con buenos resultados para la madre y el hijo. Conclusiones: La anestesia conductiva es una alternativa en la cesárea de pacientes con acondroplasia. Aunque no existen recomendaciones claras para orientar el acceso seguro al neuroeje ni para administrar medicamentos anestésicos a este nivel, se puede considerar el uso de la ecografía y la administración titulada de fármacos neuroaxiales (epidural, epidural-espinal y espinal continua) para mejorar la seguridad y la eficacia de la técnica en este tipo de pacientes.

Introduction:Cesarean section under general anesthesia is recommended in achondroplastic pregnant patients; however, the use of conductive techniques has been recently reported, with acceptable results. Objective: To describe the anesthesia management in an achondroplastic patient scheduled for C-section under combined spinal-epidural anesthesia. Methods and results:We present the case of a first pregnancy in a patient with achondroplasia, height 110 cm and 37 weeks of gestation. The patient underwent cesarean section under ultrasound-guided conductive anesthesia, using a titrated mixture of local anesthetic and opiate, with good results for the mother and child. Conclusions:Conductive anesthesia is an option in C-section in patients with achondroplasia. Although there are no clear recommendations to guide a safe access to the neuroaxis or to administer anesthetic agents at this level, ultrasound and the titrated administration of neuraxial drugs (epidural, epidural-spinal and continuous spinal) for improved safety and efficacy of the technique in this type of patients may be considered.

Vía respiratoria difícil en paciente obstétrica acondroplásica / A difficult airway in an obstetrics patient presenting with achondroplasia

Introducción: La acondroplasia es la condición más común asociada a una estatura baja con grave desproporción anatómica. Las complicaciones de la vía respiratoria difícil constituyen una de las causas más frecuente de su morbilidad y mortalidad, entre las que se pueden citar: macroglosia, escasa apertura bucal, presencia de una tráquea estrecha, limitación en la movilidad cervical, problemas pulmonares crónicos, mandíbula pequeña con aglomeración de la dentadura y mentón prominente. Objetivo: Describir la conducta anestésica de una paciente obstétrica acondroplásica con vía respiratoria difícil. Caso Clínico: Paciente del sexo femenino, de 20 años de edad, con diagnóstico de acondroplasia y asma bronquial. Embarazo gemelar de 34 semanas el cual le imposibilitaba la deambulación, la sostenibilidad, dificultad respiratoria y no tolerancia del decúbito supino. Se le practicó cesárea, abordaje de vía respiratoria difícil, intubación con máscara laríngea Fastrach colocación de tubo endotraqueal # 6.0, ventilación controlada adecuada, utilización de relajantes musculares no despolarizantes, estabilización hemodinámica intraoperatoria, recuperación. Se trasladó a Sala Recuperación Anestésica sin complicaciones. Alta médica a los 10 días de hospitalización. Conclusiones: El abordaje de la vía respiratoria de las pacientes con Acondroplasia constituye un enigma para los anestesiólogos, pero la discusión multidisciplinaria y la ejecución de un plan de actuación favoreció el buen resultado del binomio madre-feto.

Introduction: The achondroplasia is the commonest condition associated with a low height with a severe anatomical disproportion. The complications of the difficult airway are one of the more frequent cause of morbility and mortality including: macroglossia, an scarce buccal aperture, presence of a narrow trachea, limitation of cervical mobility, chronic pulmonary problems, small mandible with teeth crowding and a prominent chin. Objective: To describe the anesthetic behavior of an obstetrics patient with achondroplasia and a difficult airway. Clinical case: A female patient aged 20 diagnosed with achondroplasia and bronchial asthma. A twin pregnancy of 34 weeks avoiding her to walk, to stand up, respiratory difficulty and no tolerance of supine decubitus. She undergoes a cesarean section, approach of the difficult airway, intubation with a Fastrach laryngeal mask, placement of the #6.0 endotracheal tube, appropriate controlled ventilation, use of non-depolarizing muscle relaxants, intraoperative hemodynamic stabilization, recovery. She was transferred to Anesthesia Recovery Ward with complications, was discharged at 10 days of hospitalization. Conclusions: The approach of the airway of patients with achondroplasia is an enigma for anesthesiologists, but the multidisciplinary discussion and the performance of action plan favored the good result of mother-fetus duo.

Achondroplasia among ancient populations of mesoamerica and South America: Iconogaphic and Archaeological Evidence / La acondroplasia entre las poblaciones antiguas de mesoamérica y sudamérica: evidencia iconográfica y arqueológica

ntroduction: Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, genu varum, and trident hand. Although the etiology of this disease was reported in 1994, evidence of this disease in ancient populations has been found in populations of ancient Egypt (2500 BC) and it has been documented in ancient American populations. Objective: To analyze the presence of individuals with achondroplasia in the Mayan state society of Mexico and Guatemala, during the Classical (100-950 AC) and Post-Classical (950 - 1519 AC) periods; likewise, in the hierarchical-chieftain society of Tumaco-la Tolita (300 BC - 600 AC) from the Colombia-Ecuador Pacific coast, and the Moche state society (100 - 600 AC) from the northern coast of Peru. Materials and methods: Iconographic and clinical-morphological studies of some of the most important artistic representations of individuals of short stature in these three cultures. Conclusion: We present the hypothesis that the individuals with short stature were somehow associated with the political and religious power elite.

Introducción: La acondroplasia es la forma más frecuente de enanismo. Los individuos presentan acortamiento rizomélico de las extremidades, facies característica con prominencia frontal, hipoplasia media de la cara, genu varo, y la mano tridente. Aunque la etiología de esta enfermedad fue reportada en 1994, evidencia de la existencia esta enfermedad se ha encontrado en poblaciones del antiguo Egipto (2500 aC) y ha sido documentada en poblaciones americanas antiguas. Objetivo: Analizar la presencia de personas con acondroplasia en la sociedad del estado maya de México y Guatemala, durante el período clásico (100-950 aC) y postclásico (950 a 1519 aC), del mismo modo, en la sociedad de Tumaco-la Tolita (300 aC - 600 dC) de la costa del Pacífico entre Colombia y Ecuador, y el Estado y la sociedad Moche (100-600 aC) de la costa norte del Perú. Materiales y métodos: Se realizaron estudios iconográficos y clínico morfológico de algunas de las representaciones artísticas más importantes de las personas de talla baja en estas tres culturas. Conclusiones: Se presenta la hipótesis de que los individuos con talla baja se asociaban de alguna manera con la élite del poder político y religioso.

Acondroplasia -estenosis del canal medular- una complicación neurológica / Achondroplasia -spinal canal stenosis-a neurological complication

Introducción. La acondroplasia es un trastorno genético del crecimiento óseo de herencia autosómica dominante. Su incidencia es de 1:26,000 nacimientos por año. Este trastorno es causado por una mutación en el gen que codifica al receptor tipo 3 del factor de crecimiento del fibroblasto (FGFR3) en el cromosoma 4, el cual se expresa en los condrocitos de la placa de crecimiento de los huesos; de esta manera afecta la osificación endocondral. Se manifiesta clínicamente por talla baja con desproporción anatómica, macrocefalia, acortamiento de extremidades y deformidades esqueléticas. Las complicaciones neurológicas de la acondroplasia son la causa más frecuente de morbilidad y mortalidad. Caso clínico. Se trata de un paciente femenino de 5 años de edad con acondroplasia que ingresó con diagnóstico de enfermedad tipo influenza. A la exploración física presentaba clonus, hiperreflexia, limitación funcional de extremidades y retraso del desarrollo psicomotor. Durante su estancia intrahospitalaria presentó paro respiratorio que ameritó fase III de ventilación; por la debilidad de los músculos torácicos no fue posible la extubación. Se realizó una tomografía de cráneo y una imagen de resonancia magnética cráneo-cervical, encontrando la compresión del canal cérvico-medular. Conclusiones. La identificación temprana de la compresión medular y su descompresión inmediata pueden ayudar a prevenir complicaciones serias, como la insuficiencia respiratoria y la muerte súbita.

Background. Achondroplasia (AC) is an autosomal dominant genetic disorder of bone growth with an annual incidence of 1:26,000 births. It is caused by a mutation in the gene encoding the receptor type 3 growth of fibroblast factor (FGFR3) on chromosome 4, which is present in chondrocytes of the growth plate of bones, thus affecting endochondral ossification. It is manifested clinically by short stature with anatomic disproportion, macrocephaly, shortened limbs and skeletal deformities. Neurological complications of AC are the most common cause of morbidity and mortality. Case report. We report the case of a 5-year-old female patient with achondroplasia who was admitted with a diagnosis of influenza-like illness. Physical examination revealed clonus, hyperreflexia, limb functional limitation, and delayed psychomotor development. During her hospital stay the patient experienced respiratory arrest, necessitating the use of phase III mechanical ventilation, making extubation impossible due to weakness of chest muscles. Cranial computed tomography (CT) and cervical magnetic resonance imaging (MRI) were performed, demonstrating compression of the cervicospinal canal. Conclusions. Early identification of spinal cord compression and its immediate decompression can help to prevent serious complications, including respiratory failure and sudden death.

Estenosis acueductal en acondroplasia: a propósito de un caso / Aqueductal stenosis in achondroplasia: report of a case

Achondroplasia is the most frequent cause of disproportionate short stature. Characterized by abnormal growth of long bones, it renders a short-limbed individual of normal intelligence. A serious potential complication is spinal compression, which can happen at any level but is particularly common at the craniocervical junction. It can cause important morbility during the first few years of life, including sudden death. We present a 22-month-old patient diagnosed with achondroplasia, who developed aqueductal stenosis with symptomatic spinal cord compression, diagnosed during a routine consultation, requiring decompressive surgery with excellent results.

La acondroplasia es la condición asociada a talla baja desproporcionada más frecuente, caracterizada por un crecimiento óseo anormal, que resulta en talla baja con extremidades cortas e inteligencia normal. Una de las complicaciones más habituales es la compresión medular, que puede ocurrir a cualquier nivel, siendo más frecuente en la unión cráneo cervical, generando alta morbimortalidad en los primeros años de vida, principalmente por muerte súbita. Presentamos una paciente de 1 año 10 meses con diagnóstico precoz de acondroplasia, que presentó en su evolución estenosis acueductal con compresión medular, sintomática, pesquisada en control rutinario, que requirió cirugía descompresiva con buena evolución posterior.

Características cranianas, faciais e dentárias em indivíduos acondroplásicos / Craniofacial and dental features in achondroplastic individuals

A acondroplasia é a forma mais comum de nanismo por encurtamento dos membros. É uma síndrome hereditária de caráter autossômico dominante, que também pode ser causada por novas mutações genéticas. A formação óssea endocondral é defeituosa e leva a alterações craniofaciais e dentárias típicas. Os pacientes acometidos apresentam macroencefalia, calota craniana volumosa, base do crânio encurtada, nariz em sela e estreitamento de vias aéreas, além de retrognatia maxilar, discrepância entre arcos dentários e maloclusões acentuadas. O presente artigo tem como objetivo apresentar as características craniofaciais e dentárias de pacientes acondroplásicos, por meio de revisão de literatura.

Achondroplasia is the most common hereditary form of dwarfism. The syndrome is inherited in an autosomal dominant manner but it can also be a result of a new gene mutation. The defective endochondral bone formation causes typical craniofacial and dental features such as enlarged calvarium, short posterior cranial base, depressed nasal bridge, short upper airway, retrognathic maxilla and malocclusion. The aim of the present article is to introduce the craniofacial and dental features of achondroplastic patients, by reviewing the literature.

Estudo comparativo do nível de qualidade de vida entre sujeitos acondroplásicos e não-acondroplásicos / Comparative study of quality of life level between achondroplasics and non-achondroplasics subjects

A acondroplasia é caracterizada como um distúrbio genético autossômico dominante que afeta a ossificação endocondral, constituindo uma das causas de nanismo. Entre as características está presente principalmente a baixa estatura e desproporção tronco/membros. Diante disso, o acondroplásico poderá se mostrar inferiorizado e insatisfeito com sua aparência física, influenciando, juntamente a outros fatores, na qualidade de vida (QV) dessa população. OBJETIVO: Comparar o nível de QV entre sujeitos acondroplásicos e não-acondroplásicos. MÉTODO: Foram avaliados 21 indivíduos acondroplásicos, sendo nove homens e 13 mulheres, pareados por idade e gênero, a 21 não-acondroplásicos. O nível de QV foi estimado por meio do questionário WHOQOL-BREF. RESULTADOS: Na comparação entre sujeitos acondroplásicos e não acondroplásicos do gênero feminino constatou-se que no domínio físico as mulheres acondroplásicas apresentaram escore médio significativamente menor, enquanto na comparação entre os gêneros, o grupo de mulheres acondroplásicas apresentou escore médio significativamente menor que os homens acondroplásicos no domínio psicológico. CONCLUSÃO: No presente estudo, a QV não apresentou diferença entre os grupos, entretanto, nos domínios físico e psicológico, as mulheres acondroplásicas demonstraram menor satisfação com sua condição.

Achondroplasia is characterized as an autosomal dominant genetic disturbance which affects the endochondral ossification which is a common cause of dwarfism syndrome. Among the characteristics the most common are the short stature and disproportional trunk/limbs. Thus, the achondroplasic subjects can face themselves inferior and not satisfied with their physical appearance, influencing, among other factors, the quality of life of this population. OBJECTIVE: To compare the quality of life level between achondroplasic and non-achondroplasic subjects. METHODS: Study with 21 achondroplasics in which, nine were men and 13 women, paired by age and gender to 21 non-achondroplasic subjects. The quality of life level was estimated by WHOQOL-BREF questionnaire. RESULTS: In the comparison between achondroplasic and non-achondroplasic females we verified that in physical domain achondroplasic women presented mean score significantly lower than non-achondroplasic. In the comparison between genders, achondroplasic females presented mean score significantly lower than achondroplasic males in psychological domain. CONCLUSION: In this study, the quality of life didn't present any difference between groups, however, in physical and psychological domains, achondroplasic women demonstrated less satisfaction to their condition.

Utilização da hidroterapia na socialização e prevenção de complicações em crianças com acondroplasia / Use of hydrotherapy in the socialization and prevention of complications in children with achondroplasia

A acondroplasia se apresenta como forma de nanismo produzida por um distúrbio de crescimento devido a deficiência na ossificação endocondral, caracterizando um distúrbio autossômico dominante de penetrância completa, em que cerca de 10% dos casos são transmitidos, pois um dos genitores é afetado; os 90% restantes são produzidos por mutação nova. Além da baixa estatura, complicações respiratórias, dentárias, obesidade e hidrocefalia são comuns. A piscina terapêutica nos dá uma oportunidade de ampliar física, mental e psicologicamente os conhecimentos e habilidades dessas crianças, quando em fase de desenvolvimento. Assim, o objetivo deste artigo foi realizar um estudo de caso demonstrando os benefícios da hidroterapia em um paciente com acondroplasia, visando retardar, prevenir, melhorar ou tratar as complicações decorrentes da doença e promover uma socialização deste paciente. Foram analisadas dentro de dez sessões de hidroterapia a evolução de uma criança do sexo masculino com três anos, acondroplásica, com falta de desenvolvimento ósseo de membros inferiores e não deambulante. Os objetivos, em relação à socialização, foram alcançados, bem como o estímulo à deambulação e prevenção de complicações respiratórias. Ressalta-se a necessidade da criança dar continuidade ao tratamento até o término de seu desenvolvimento motor normal.