Adaptación al sotobosque de una comunidad de palmas (Arecaceae) andinas desde la perspectiva de las tasas vitales / Adaptation to the undergrowth of a community of Andean palms (Arecaceae) from the vital rates perspective

Introducción: Las palmas tienen adaptaciones para prosperar en el entorno limitante del sotobosque, que se pueden examinar a partir del estudio de las tasas de supervivencia, crecimiento y fecundidad. Sin embargo, los estudios que abordan las estrategias de tasas vitales desarrolladas por una comunidad de palmas para habitar el sotobosque del bosque son escasos. Objetivo: Determinar y comparar las tasas vitales de supervivencia, crecimiento y fertilidad en una comunidad de palmas de sotobosque andino. Métodos: El estudio se realizó en el Parque Natural Chicaque, Colombia. En un área de 0.07 ha, donde se estudiaron las especies Chamaedorea linearis, C. pinnatifrons, Geonoma orbignyana y G. undata. Durante 2018 a 2019 se recolectaron datos correspondientes a supervivencia, crecimiento y fecundidad. Las tasas vitales se estimaron a partir de su relación con el tamaño de los individuos. Resultados: Se registraron un total de 597, 687, 453 y 690 individuos en 0.1 ha de C. linearis, C. pinnatifrons, G. orbignyana y G. undata, respectivamente. Las cuatro especies tuvieron una alta supervivencia de plántulas, bajas tasas de crecimiento en individuos sin tallo, baja producción de hojas, pocas hojas totales, una alta longevidad de las hojas, e inicio de la reproducción con un tallo de baja altura. No obstante, hubo diferencias entre las especies en las que G. orbignyana y C. pinnatifrons presentaron patrones comúnmente vistos en las palmas del sotobosque. Por el contrario, C. linearis y G. undata tienen estrategias de crecimiento mixtas para hacer frente a los espacios abiertos y las condiciones del sotobosque, ya que sus hojas y copas son más grandes, tienen mayores tasas de crecimiento del tallo y la reproducción comienza a mayor altura. En cuanto a los géneros, las Chamaedoreas tuvieron unas tasas de crecimiento y reproducción altas, pasando la mayor parte de su vida como adultos. Por su parte, las Geonomas priorizan la permanencia de los individuos, con sus ciclos de vida largos, tasas de crecimiento más bajas. Conclusiones: Las Chamaedoreas priorizan crecimiento y reproducción, mientras que las Geonomas priorizan la permanencia. Las condiciones limitantes del sotobosque parecen favorecer estas dos estrategias de crecimiento típicas de las especies estudiadas. Estos resultados pueden considerarse como un paso hacia el conocimiento de las estrategias de la coexistencia de las comunidades de palmeras en los bosques.

Introduction: Palms have adaptations to thrive in the limiting environment of the understory, which can be examined from studying their survival, growth and fecundity rates. However, studies that address the vital rates strategies developed by a community of palms to successfully inhabit the forest understory are scarce. Objective: To determine and compare the vital rates of survival, growth and fecundity in a community of Andean understory palms. Methods: The study was carried out in the Chicaque Natural Park, Colombia in an area occupying 0.07 ha, focused on the species Chamaedorea linearis, C. pinnatifrons, Geonoma orbignyana and G. undata. During 2018 and 2019, data corresponding to survival, growth and fecundity of these species were collected. The vital rates were estimated from their relationship with the size of the individuals. Results: A total of 597, 687, 453 and 690 individuals were registered in 0.1 ha of C. linearis, C. pinnatifrons, G. orbignyana and G. undata, respectively. The four species had high survival of seedlings, low growth rates in stemless individuals, low leaf production, few total leaves, a high longevity of the leaves and start of reproduction with low-height aerial stem. However, we found differences among species in which G. orbignyana and C. pinnatifrons demonstrated patterns commonly seen in understory palms. By contrast, C. linearis and G. undata had mixed growth strategies to cope with open spaces and understory conditions, as their leaves are larger, have larger stem growth rates and reproduction begins at a higher height. In terms of the genera, Chamaedoreas had fast growth and reproduction rates, spending most of their lives as adults. Meanwhile, Geonomas prioritizes the stasis of individuals, with its long-life cycles and lower growth rates. Conclusions: Chamaedoreas prioritizes growth and reproduction, while Geonomas prioritizes stasis. The limiting conditions of the understory seem to favor these two growth strategies in the species. These results can be considered as a step towards better understanding the strategies of a community of palms in the understory.

Genetic cluster of fragile X syndrome in a Colombian district.

BACKGROUND: Fragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism. The reported prevalence of the full mutation (FM) gene FMR1 in the general population is 0.2-0.4 per 1000 males and 0.125-0.4 per 1000 females. Population screening for FMR1 expanded alleles has been performed in newborns and in an adult population. However, it has never been carried out in an entire town. Ricaurte is a Colombian district with 1186 habitants, with a high prevalence of FXS, which was first described by cytogenetic techniques in 1999. METHODS: Using a PCR-based approach, screening for FXS was performed on blood spot samples obtained from 926 (502 males and 424 females) inhabitants from Ricaurte, accounting for 78% of total population. RESULTS: A high prevalence of carriers of the expanded allele was observed in all FXS mutation categories. Using the Bayesian methods the carrier frequency of FM was 48.2 (95% Credibility Region CR: 36.3-61.5) per 1000 males and 20.5 (95% CR:13.5-28.6) per 1000 females; the frequency of premutation carrier was 14.1 (95% RC: 8.0-21.7) per 1000 males (95% RC: 8.0-21.7 per 1000 males) and 35.9 (95% RC: 26.5-46.2) per 1000 for females (95% RC: 26.5-46.2 per 1000 females), and gray zone carrier was 13.4 (95% RC: 7.4-20.7) per 1000 males (95% RC: 7.4-20.7 per 1000 males) and 42.2 (95% RC: 32.2-53.8) per 1000 for females (95% RC: 32.2-53.8 per 1000 females). Differences in carrier frequencies were observed for premutation and FM alleles between natives and non-natives. CONCLUSIONS: This study shows that in Ricaurte the carrier frequencies of FMR1 expanded alleles (premutations and FMs) are higher than those reported in the literature, suggesting that Ricaurte constitutes a genetic cluster of FXS.

Distrofia miotónica tipo 1: reporte de un caso de un paciente colombiano / Myotonic dystrophy type 1: case report of a colombian patient

Introducción: La distrofia miotónica es una enfermedad poco frecuente de origen genético. Se produce por aumento de repeticiones de la tripleta CTG en el gen DMPK (locus 19q13.32), o por aumento de repeticiones de CCTG en el gen ZNF9 (locus3q21.3). Su fenotipo es variable y sus principales características son la debilidad muscular progresiva y la miotonía. El objetivo de esta publicación es reportar un caso colombiano de distrofia miotónica tipo 1 con diagnóstico molecular y contribuir a la construcción de datos epidemiológicos locales sobre esta patología. Además, aportar información a médicos generales, pediatras, internistas, fisiatras, neurólogos, y en general al personal de salud que puede tener contacto con pacientes con debilidad muscular progresiva, escenario en el cual la distrofia miotónica es una posibilidad diagnóstica a considerar. Descripción del caso: Hombre de 37 años, con historia de pobre succión neonatal, retraso en los hitos del desarrollo, discapacidad intelectual y, en la adolescencia, aparición de debilidad progresiva generalizada, miotonía y disfagia. El Southernblot y PCR del gen DMPK mostraron un alelo expandido en un rango entre 1100 a 1700 repeticiones del triplete CGT y un alelo normal, confirmando el diagnóstico de distrofia miotónicatipo 1. Conclusión: El paciente aquí reportado presentó fenotipo sugestivo de DM1; el diagnóstico fue confirmado con la prueba molecular. Con el resultado fue posible realizar una consejería genética adecuada y brindar información sobre la enfermedad.

Introduction: Myotonic dystrophy (MD) is a rare genetic disease. It is produced by an increased repetition of the CTG triplet in the DMPK gene (locus 19q13.32), or by increasing repetitions of CCTG in the ZNF9 gene (locus 3q21.3). Its phenotype is variable, and its key features are progressive muscle weakness and myotonia. The aim of this publication is to report a Colombian case of myotonic dystrophy type 1 with molecular diagnosis and to contribute to the construction of local epidemiological data on this pathology. Also, to provide information to general practitioners, pediatricians, internists, physiatrists, neurologists, and health personnel who may have contact with patients with progressive muscle weakness, scenario in which myotonic dystrophy is a diagnostic possibility to be considered. Case description: Thirty-seven year old male with a history of poor neonatal suction, delay in developmental milestones, intellectual disability and, in adolescence, the onset of progressive generalized weakness, myotonia and dysphagia. Southern blot and PCR of DMPK gene showed one expanded allele in a range between 1100-1700 repetitions of the CGT triplet and one normal allele, confirming the diagnosis of myotonic dystrophy type 1. Conclusion: The patient reported here presented a phenotype suggestive of myotonic dystrophy type 1; the diagnosis was confirmed by molecular testing. This result made it possible to offer a proper genetic counseling and provide information about the disease.

Un caso de deleción parcial 1p36. 1 y trisomía parcial 6p diagnosticadas por cariotipo / A case of partial 1p36. 1 deletion and partial trisomy 6p diagnosed by karyotype

La deleción de la región cromosómica 1p36 es una de las anomalías subteloméricas más frecuentes y causa rasgos dismórficos distintivos. Por otro lado, la trisomía distal del brazo corto del cromosoma 6 es una anormalidad cromosómica poco frecuente de fenotipo variable. Objetivo: Presentar el caso de un paciente con ambas alteraciones cromosómicas, y resaltar la vigencia e importancia del cariotipo como herramienta diagnóstica en dismorfología. Caso clínico: Lactante de 2 meses de edad con múltiples anomalías craneofaciales, hemangioma en la nuca, fosita sacra, acortamiento rizomélico, pies y manos pequeños, criptorquidia unilateral izquierda e hipotonía. Además, antecedente de restricción del crecimiento intrauterino. Producto del octavo embarazo de una mujer G8A7C1 de 28 años. Con estos hallazgos inespecíficos en el fenotipo se solicitó cariotipo que mostró una deleción parcial de 1p36.1 y una trisomía parcial de cromosoma 6p. Conclusión: El cariotipo convencional sigue siendo una herramienta importante para el etiológico en pacientes con anomalías congénitas (múltiples), mostrando en este caso una deleción parcial de 1p36.1 y una trisomía parcial de cromosoma 6p, alteraciones cromosómicas estructurales.

The deletion of chromosomal region 1p36 is one of the most common sub-telomeric microdeletion syndromes and has distinctive dysmorphic features. On the other hand, partial trisomy of the short arm of chromosome 6 is a rare chromosomal abnormality with a variable phenotype. Objective: To report a case with both chromosome abnormalities, and to highlight the importance of the karyotype as a diagnostic tool in dysmorphology. Clinical case: The case of is presented of a two month-old infant with several craniofacial anomalies, neck haemangioma, sacral pit, rhizomelic shortening, small hands and feet, left unilateral cryptorchidism, and hypotonia. The infant also suffered intrauterine growth restriction and is the product of the eighth pregnancy of a 28 years old woman. Due to the unspecific findings in phenotype, a karyotype was requested, which showed a partial deletion of 1p36.1 and a partial trisomy of chromosome 6. Conclusion: The development of new techniques in molecular biology has improved diagnostic possibilities in medical genetics. However, the traditional karyotype remains as an important diagnostic tool in patients with multiple congenital anomalies.

[A case of partial 1p36.1 deletion and partial trisomy 6p diagnosed by karyotype]. / Un caso de deleción parcial 1p36.1 y trisomía parcial 6p diagnosticadas por cariotipo.

The deletion of chromosomal region 1p36 is one of the most common sub-telomeric microdeletion syndromes and has distinctive dysmorphic features. On the other hand, partial trisomy of the short arm of chromosome 6 is a rare chromosomal abnormality with a variable phenotype. OBJECTIVE: To report a case with both chromosome abnormalities, and to highlight the importance of the karyotype as a diagnostic tool in dysmorphology. CLINICAL CASE: The case of is presented of a two month-old infant with several craniofacial anomalies, neck haemangioma, sacral pit, rhizomelic shortening, small hands and feet, left unilateral cryptorchidism, and hypotonia. The infant also suffered intrauterine growth restriction and is the product of the eighth pregnancy of a 28 years old woman. Due to the unspecific findings in phenotype, a karyotype was requested, which showed a partial deletion of 1p36.1 and a partial trisomy of chromosome 6. CONCLUSION: The development of new techniques in molecular biology has improved diagnostic possibilities in medical genetics. However, the traditional karyotype remains as an important diagnostic tool in patients with multiple congenital anomalies.

Duplicación cráneo-facial (diprosopus) con trioftalmos diagnosticado mediante ecografía obstétrica 3D / Craniofacial duplication (diprosopus) with trioftalmos, diagnosed by 3D obstetric ultrasound

La duplicación cráneo-facial (diprosopus) es el resultado de la forma menos común de gemelos acoplados. La utilización de la ecografía 3D para el diagnóstico de esta patología ha sido reportada. Se presenta el segundo caso de esta patología en Colombia. Caso clínico de hijo de madre de 28 años a quien se le realizó diagnóstico prenatal con ecografía 3D, de duplicación craneofacial y de la columna vertebral. Cariotipo prenatal bandeo G: 46, XX. Al nacimiento se encontró feto de sexo femenino con duplicación craneofacial con la presencia de tres ojos, dos narices y dos bocas, con presencia de columna vertebral duplicada hasta la región cervical con espina bífida a nivel cervical. La utilización de ecografía 3D, permite realizar un diagnóstico oportuno de esta patología, lo que permite un abordaje multidisciplinario de las gestantes(AU)

Craniofacial duplication (diprosopus) is the result of the less common form of coupled twins. The use of 3D ultrasound for diagnosis of this disease has been reported.A second case of this disease occurs in Colombia. A clinical case of a son of 28-year-old mother, who underwent prenatal diagnosis with 3D ultrasound of craniofacial duplication and spine.Prenatal karyotype banding G: 46XX. At birth, a female fetus was found with craniofacial duplication, the presence of three eyes, two noses and two mouths, the presence of duplicate backbone up to the cervical region, and spina bifida at the cervical level. The use of 3D ultrasound allows early diagnosis of this disease, allowing a multidisciplinary approach of pregnant women(AU)

Phenobarbital use and neurological problems in FMR1 premutation carriers.

Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by a CGG expansion in the FMR1 gene located at Xq27.3. Patients with the premutation in FMR1 present specific clinical problems associated with the number of CGG repeats (55-200 CGG repeats). Premutation carriers have elevated FMR1 mRNA expression levels, which have been associated with neurotoxicity potentially causing neurodevelopmental problems or neurological problems associated with aging. However, cognitive impairments or neurological problems may also be related to increased vulnerability of premutation carriers to neurotoxicants, including phenobarbital. Here we present a study of three sisters with the premutation who were exposed differentially to phenobarbital therapy throughout their lives, allowing us to compare the neurological effects of this drug in these patients.

Defectos congénitos en un hospital de tercer nivel en Cali, Colombia / Congenital defects in a tertiary level hospital in Cali, Colombia

OBJETIVO: Determinar la prevalencia global e individual de los defectos congénitos diagnosticados al nacimiento en un hospital de referencia de la ciudad de Cali, Colombia, periodo 2011-2012 y comparar los resultados con lo reportado previamente para la misma institución. MÉTODOS: Se realizó vigilancia epidemiológica de defectos congénitos en el Hospital Universitario del Valle entre julio 2011 y junio 2012, siguiendo la metodología ECLAMC. Se realizaron tablas para ilustrar la distribución de la frecuencia de los defectos congénitos. RESULTADOS: Durante los 12 meses de estudio, se atendieron 5.669 nacimientos, de los cuales 109 presentaron al menos un defecto congénito, para una prevalencia de 1,92%. Para defectos congénitos específicos se registraron las prevalencias más altas para: polidactilia (24,69 x 10.000), apéndice preauricular (15,87 x 10.000), hidrocefalia (15,87 x 10.000), hidronefrosis (15,87 x 10.000). Al agruparlos, las prevalencias más altas fueron para los siguientes grupos: defectos de las extremidades (79,37 x 10.000), defectos del sistema nervioso central (49,39 x 10.000), defectos por disrupción vascular (40,57 x 10.000). CONCLUSIONES: En el periodo de vigilancia en la institución se encontró una prevalencia de defectos congénitos similar a la reportada previamente en la misma. Al agruparlos, las prevalencias más altas fueron para los defectos de las extremidades, defectos del sistema nervioso central y defectos por disrupción vascular. Los defectos congénitos relacionados con factores ambientales, principalmente defectos del tubo neural y defectos por disrupción vascular presentaron prevalencias más altas en comparación con lo reportado previamente.

AIMS: To determine the overall and individual prevalence of birth defects diagnosed at birth in a referral hospital in Cali, Colombia, in the period 2011-2012 and compare the results with previously reported for the same institution. METHODS: Epidemiological surveillance of birth defects was performed at the Hospital Universitario del Valle between July 2011 and June 2012, following ECLAMC methodology. Tables were performed to illustrate the frequency distribution of birth defects. RESULTS: During the 12 months of study there were 5,669 births, of which 109 had at least one birth defect, for a prevalence of 1.92%. For specific birth defects, the highest prevalence were recorded for polydactyly (24.69 x 10,000), auricular appendage (15.87 x 10,000), hydrocephalus (15.87 x 10,000), hydronephrosis (15.87 x 10,000). By grouping, the highest prevalence was for the following groups: limb defects (79.37 x 10,000), central nervous system defects (49.39 x 10,000), vascular disruption defects (40.57 x 10,000). CONCLUSIONS: In the surveillance period in the institution it was found a prevalence of birth defects similar to that previously reported in the same institution. By grouping, the highest prevalence were for limb defects, defects of the central nervous system and vascular disruption defects. Birth defects associated with environmental factors, principally neural tube defects and defects by vascular disruption had higher prevalence compared with those reported previously.

[Pollination ecology of three sympatric species of Oenocarpus (Arecaceae) in the Colombian Amazon]. / Ecología de la polinización de tres especies de Oenocarpus (Arecaceae) simpátricas en la Amazonia Colombiana.

The understanding of pollination mechanisms is vital for developing management and conservation actions of economically important species. In order to understand the pollination mechanisms of the promising palms in the genus Oenocarpus (Arecaceae), we studied floral morphology and biology, of three sympatric species in the Colombian Amazon: O. bataua, O. balickii and O. minor. During the period 2010-2012 we made direct and continuous observations of inflorescences (visitors, pollinators, and reproductive success) of the three species in every development phase. We determined the association of the palms with their floral visitors through a complex or interaction network, whereas specificity or preference of the insects for each individual palm was assessed through paired similarity analysis, similarity analysis (ANOSIM), and ordering analysis based on nonmetric multidimensional scaling (NMSD). The three species flowered throughout the year; their inflorescences have long rachillae that hang close to each other from a short rachis, and they bear flowers in dyads or triads. Inflorescences are protandrous, thermogenic; anthesis takes place during daytime but pollination is nocturnal. We recorded 79 species of insects, mainly beetles, 33 of which visited O. balickii, 63 visited O. bataua, and 33 visited 0. minor. Although they shared some visitors, their abundance during the pistillate phase, as well as their pollen loads showed that only a few species of Curculionidae and Nitidulidae are the principal pollinators of the three studied species. Differences in network structure between staminate and pistillate phases, as well as difference in abundance found with the ANOSIM and NMSD similarity tests, suggest a high specificity of pollinators, leading to reproductive isolation among.the three species. Because all pollinating beetles were found to develop their life cycles within the inflorescences, we hypothesize the occurrence of a specialized system of mutual dependence between each of this three Oenocarpus species and their pollinators. This specialization assures a year-round availability of the pollinators.

Ecología de la polinización de tres especies de Oenocarpus (Arecaceae) simpátricas en la Amazonia Colombiana / Pollination ecology of three sympatric species of Oenocarpus (Arecaceae) in the Colombian Amazon

The understanding of pollination mechanisms is vital for developing management and conservation actions of economically important species. In order to understand the pollination mechanisms of the promising palms in the genus Oenocarpus (Arecaceae), we studied floral morphology and biology, of three sympatric species in the Colombian Amazon: O. bataua, O. balickii and O. minor. During the period 2010-2012 we made direct and continuous observations of inflorescences (visitors, pollinators, and reproductive success) of the three species in every development phase. We determined the association of the palms with their floral visitors through a complex or interaction network, whereas specificity or preference of the insects for each individual palm was assessed through paired similarity analysis, similarity analysis (ANOSIM), and ordering analysis based on non-metric multidimensional scaling (NMSD). The three species flowered throughout the year; their inflorescences have long rachillae that hang close to each other from a short rachis, and they bear flowers in dyads or triads. Inflorescences are protandrous, thermogenic; anthesis takes place during daytime but pollination is nocturnal. We recorded 79 species of insects, mainly beetles, 33 of which visited O. balickii, 63 visited O. bataua, and 33 visited O. minor. Although they shared some visitors, their abundance during the pistillate phase, as well as their pollen loads showed that only a few species of Curculionidae and Nitidulidae are the principal pollinators of the three studied species. Differences in network structure between staminate and pistillate phases, as well as difference in abundance found with the ANOSIM and NMSD similarity tests, suggest a high specificity of pollinators, leading to reproductive isolation among the three species. Because all pollinating beetles were found to develop their life cycles within the inflorescences, we hypothesize the occurrence of a specialized system of mutual dependence between each of this three Oenocarpus species and their pollinators. This specialization assures a year-round availability of the pollinators. Rev. Biol. Trop. 63 (1): 35-55. Epub 2015 March 01.

La comprensión de los mecanismos de polinización son de gran importancia para el desarrollo de planes de manejo y acciones de conservación de las especies de importancia económica. Con el objeto de conocer los mecanismos de polinización de palmas promisorias del género Oenocarpus (Arecaceae), se estudió la morfología, la biología floral, los visitantes, los polinizadores y éxito reproductivo de tres especies simpátricas en la Amazonía colombiana: O. bataua, O. balickii y O. minor. Durante el período 2010-2012 realizamos observaciones directas durante las fases de desarrollo de las inflorescencias en las tres especies. Se determinó la asociación de las palmas con sus visitantes florales a través de una red compleja, mientras que la especificidad o la preferencia de los insectos por cada palma individual se evaluó mediante el análisis similitud pareada, análisis de similitud (ANOSIM), un análisis de ordenación a partir del escalamiento multidimensional no métrico (NMSD). Las tres palmas florescen todo el año; sus inflorescencias contienen raquilas que cuelgan de un raquis corto, y presentan flores agrupadas en díadas o tríadas. Las inflorescencias son protandras, termogénicas; la antesis tiene lugar durante el día, pero la polinización es nocturna. Se registraron 79 especies de insectos, principalmente coleópteros, 33 de los cuales visitaron O. balickii, 63 a O. bataua y 33 a O. minor. Aunque compartían algunos visitantes, su abundancia en la fase pistilada, así como la carga de polen mostró que sólo unas pocas especies de Curculionidae y Nitidulidae son los polinizadores de las tres especies. Las diferencias en la estructura de la red entre las fases estaminadas y pistiladas, así como la diferencia en la abundancia encontrada con las pruebas de similitud ANOSIM y NMSD, sugieren una alta especificidad de polinizadores, lo que lleva a un aislamiento reproductivo entre las tres especies. Debido a que se encontró que todas las especies de coleópteros polinizadores desarrollan su ciclo de vida dentro de las inflorescencias de cada palma, se sugiere la presencia de un sistema especializado y de mutua dependencia entre los polinizadores y las especies de Oenocarpus. Esta especialización garantiza la disponibilidad de polinizadores durante todo el año.

[Vascular disruption birth defects are not associated to chromosomal alterations]. / Defectos por disrupción vascular no asociados con alteraciones cromosómicas.

BACKGROUND: It is estimated that 2 to 35 of newborns present a congenital malformation. Some publications suggest that vascular disruption birth defects are not associated with chromosomal alterations detected by conventional karyotype. OBJECTIVE: to determine the frequency of chromosomal alterations detected by high resolution G banded karyotype in patients with vascular disruption birth defects in a Colombian population (South America). MATERIAL AND METHOD: transversal study. Population: a sample of patients identified by an epidemiological surveillance system of congenital malformations in a reference hospital in Cali, Colombia. RESULTS: 41 cases of vascular disruption birth defects were identified during a 36 month period; in a descending order those were: transverse reduction defects, hydranencephaly and gastroschisis. Two expert cytogenetists performed independent evaluation of the genetic material of the patients, and no chromosomal alterations detectable by G banded karyotype were identified. CONCLUSIONS: It is recommended that genetic counseling in cases of defects by vascular disruption is carried out taking into account the empirical recurrence risks reported for each one the types of defects by vascular disruption and the use of karyotype should be limited to cases with other malformations or chromosomal abnormality suspected by phenotype.

Down syndrome passed from mother to child.

Down syndrome is the leading cause of inherited intellectual disability; it is characterized by mental retardation associated to physical growth delay and certain physical traits or features. It is caused by the presence of a third copy of chromosome 21, being this trisomy the most common chromosomal aneuploidy. Women with Down syndrome are less fertile, and pregnancy in these women is rare, although the information on exact statistics of reproduction in these patients is very limited, and they often have difficulties with miscarriage, premature birth, and difficult labor. We report the case of a preterm newborn with Down syndrome passed from her mother; this pregnancy was a result of sexual assault, which is an event that can and should be prevented in this population.

Ellis van Creveld: reporte de caso / Ellis van Creveld: Case report

Introduction: Ellis-van Creveld (EVC) (OMIM # 225500) syndrome is a rare skeletal dysplasia disorder transmitted by autosomal recessive inheritance. The diagnosis is made based on phenotypic characteristics such as chondrodysplasia, heart defects and polydactyly. The prognosis depends mainly on the severity of the disease, diagnosis and comprehensive management of the condition. Objective: To describe a patient diagnosed with EVC syndrome. Case report: Newborn diagnosed with EVC syndrome who presented dysmorphic facies, shortened long bones, rhizomelic shortening, small hands, brachydactyly, single transverse palmar crease, postaxial polydactyly in the upper limbs, bilateral preaxial polysyndactyly in lower limbs and hypoplastic nails, complex heart defects and narrow thorax. The evolution was unfavorable; the patient died 8 weeks after birth from complications due to heart defects. Conclusions: EVC syndrome is rare and unknown; therefore, it is important to spread its characteristics within the pediatric community, emphasizing that it affects multiple organ systems and requires a multidisciplinary approach to treat individually each patient, to provide genetic and reproductive counseling to couples and to give information regarding child development expectations.

Introducción: El síndrome Ellis-van Creveld (EVC) (OMIM #225500) es una displasia esquelética rara de herencia autosómica recesiva, cuyo diagnóstico se realiza por sus características fenotípicas como la condrodisplasia, cardiopatía y polidactilia. El pronóstico depende fundamentalmente de la severidad de la cardiopatía, al igual que del diagnóstico y manejo integral oportunos. Objetivo: Caracterizar un paciente con diagnóstico clínico de Síndrome de EVC, cuya baja frecuencia dificulta el correcto diagnóstico en pediatría. Caso clínico: Recién nacido con facies dismórfica, extremidades con huesos largos cortos, acortamiento rizomélico, manos pequeñas, braquidactilia, pliegue palmar único, polidactilia post axial en miembros superiores, polisin-dactilia preaxial bilateral en miembros inferiores y uñas hipoplásicas, cardiopatía compleja y tórax estrecho, en el que se concluyó un diagnóstico clínico de EVC. La evolución fue desfavorable, falleciendo a las 8 semanas de nacimiento por complicaciones secundarias a la cardiopatía. Conclusiones: El síndrome de EVC es de baja frecuencia y poco conocido, por lo que es importante difundir sus características en la comunidad pediátrica, haciendo énfasis en que al afectar múltiples sistemas y órganos, requiere un manejo multidisciplinario con el objetivo de intervenir en la patología individualizando cada paciente; además de consejería genética y reproductiva a las parejas, e información de las expectativas del desarrollo del niño.

Pentalogía de Cantrell y bandas amnióticas: reporte de un caso y revisión de la literatura / Pentalogy of Cantrell and amniotic bands: A case report and review of the literature

Objetivo: reportar un caso de pentalogía de Cantrell asociado a acranea, hendidura facial medial y reducción de las extremidades derechas originado por bandas amnióticas. Realizar una revisión de la literatura sobre la patogénesis de las bandas amnióticas y los hallazgos en el caso reportado.Materiales y métodos: se presenta el caso de un recién nacido muerto, con malformaciones congénitas antes mencionadas, hijo de madre primigestante de 15 años con 34 semanas de gestación, que consultó al Hospital Universitario del Valle (HUV), hospital de nivel III y IV de referencia en obstetricia, de la red pública del suroccidente colombiano. Como fuente de información se utilizó la historia clínica, fotografías del recién nacido y los Rayos X.Se realizó una búsqueda de literatura con las palabras clave "Pentalogy of Cantrell and amniotic band syndrome", "Limb body wall complex and amniotic band syndrome" en las bases de datos Medline vía PubMed en inglés y español, sin límite de tiempo; se buscaron reportes de caso, revisiones de tema y series de casos.Resultados: se encontraron treinta artículos, se analizaron todas las referencias y se halló que catorce corresponden a reportes de caso, ocho a revisiones de tema y ocho a series de casos.Conclusiones: se reporta un caso de pentalogía de Cantrell, posiblemente por bandas amnióticas originadas en el desarrollo embrionario. El caso se clasificó como complejo cuerpo-extremidad (LBWC), secundario a bandas amnióticas.

Objective: To report a Pentalogy of Cantrell case associated with acrania, medial facial cleft and reduction of the right limbs as a result of amniotic bands; and to conduct a review of the literature on the pathogenesis of amniotic bands and the findings of the reported case.Materials and methods: Case report of a demised neonate with the above mentionated congenital malformations born to a 15 year-old primigravida in her 34 weeks of gestation who came to Hospital Universitario del Valle (HUV), a level III and IV referral hospital for obstetrics belonging to the public network in south-western Colombia. The clinical record, photographs of the neonate and X-Ray images were used as the sources of information. A search in the literature was conducted using the terms "Pentalogy of Cantrell and amniotic band syndrome", "Limb body wall complex and amniotic band syndrome" through PubMed in the Medline databases in English and Spanish, with no time limitation; the search included case reports, topic reviews and case series.Results: Overall, 30 articles were found and all the references were analysed; 14 were case reports, 8 were topic reviews and 8 were case series.Conclusions: Report of a Pentalogy of Cantrell case, probably resulting from amniotic bands arising during embryo development. It was classified as a limb body wall complex (LBWC), secondary to amniotic bands.

Down syndrome passed from mother to child / Transmisión de síndrome de Down de madre a hijo

Down syndrome is the leading cause of inherited intellectual disability; it is characterized by mental retardation associated to physical growth delay and certain physical traits or features. It is caused by the presence of a third copy of chromosome 21, being this trisomy the most common chromosomal aneuploidy. Women with Down syndrome are less fertile, and pregnancy in these women is rare, although the information on exact statistics of reproduction in these patients is very limited, and they often have difficulties with miscarriage, premature birth, and difficult labor. We report the case of a preterm newborn with Down syndrome passed from her mother; this pregnancy was a result of sexual assault, which is an event that can and should be prevented in this population.

El síndrome de Down es la principal causa de discapacidad intelectual congénita; se caracteriza por retraso mental asociado a retardo del crecimiento y del desarrollo psicomotor, así como a algunas características físicas típicas. Se debe a la presencia de una tercera copia del cromosoma 21, siendo esta trisomía la aneuploidía cromosómica más común. Las mujeres con síndrome de Down tienden a ser menos fértiles y el embarazo en ellas es poco frecuente, aunque los datos estadísticos de este evento son limitados, y se asocia, además, a dificultades que terminan en aborto, parto prematuro y parto difícil. Se reporta el caso de un recién nacido prematuro con síndrome de Down, hijo de madre con el mismo diagnóstico, producto de un embarazo resultado de violación, evento que debe ser prevenido de forma oportuna en esta población de alto riesgo.

A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.

INTRODUCTION: Microcephalic osteodysplastic primordial dwarfism is a syndrome characterized by the presence of intrauterine growth restriction, post-natal growth deficiency and microcephaly. Microcephalic osteodysplastic primordial dwarfism type II is the most distinctive syndrome in this group of entities. Individuals affected by this disease present at an adult height of less than 100 cm, a post-pubertal head circumference of 40 cm or less, mild mental retardation, an outgoing personality and bone dysplasia. CASE PRESENTATION: We report the first case of a five-year-old Colombian boy of mixed race ancestry (mestizo), with clinical features of microcephaly, prominent and narrow nose, arched palate, amelogenesis imperfecta, short stature, tall and narrow pelvis, disproportionate shortening of fore-arms and legs, and mild coxa vara. Analysis of the PCNT gene by sequencing showed the presence of a nucleotide change in exon 10, c. 1468C>T, evidencing a new mutation not reported in the literature for microcephalic osteodysplastic primordial dwarfism. CONCLUSION: The new mutation identified in this case could be associated with the severity of the phenotypic expression of the disease, resulting in the extreme short stature of the patient. Further studies are required to reach an explanation that can justify such findings, and it is vital to emphasize the importance of detection and follow-up by the epidemiological surveillance groups in birth defects and rare diseases.

Síndrome de Meckel con onfalocele y labio fisurado / Meckel syndrome with omphalocele and cleft lip

El síndrome de Meckel es un desorden autosómico recesivo, raro y letal. Se caracteriza por múltiples malformaciones, entre estas, la triada de encefalocele occipital, riñones poliquísticos y polidactilia. Se presenta un caso con múltiples malformaciones incluyendo las menos frecuentes como el onfalocele, la hipospadia y el labio fisurado.

The Meckel Gruber syndrome is a lethal, rare and autosomal disorder. It is characterized by multiple malformations, among these the triad of occipital encephalocoele, large polycystic kidneys and post-axial polydactyly. A case with multiple malformations, including the less frequent as omphalocele, hypospadias and cleft lip is presented.

Asociación VACTERL y síndrome de Moebius en un recién nacido expuesto prenatalmente a misoprostol / VACTERL association and Moebius syndrome in a newborn girl prenatally exposed to misoprostol

El misoprostol, un análogo sintético de la prostaglandina E1, se ha asociado a un aumento en el riesgo de ocurrencia del síndrome de Moebius (parálisis congénita del VII par craneal que puede estar asociada a compromiso de otros pares craneales o incluso de otros sistemas) y defectos de las extremidades de tipo transversal-terminal en embarazos en que las madres utilizan este medicamento durante el primer trimestre de gestación. Se ha propuesto la perturbación vascular como mecanismo teratogénico del misoprostol. La asociación VACTERL es la coocurrencia estadísticamente no aleatoria de defectos vertebrales, anomalías vasculares, atresia anal, anomalías cardíacas, fístula traqueoesofágica con atresia esofágica, displasia renal y radial y anomalías de las extremidades diferentes a las radiales. No existe evidencia de una causa unificadora de la coocurrencia de las malformaciones VACTERL, por lo que esta condición se sigue denominando asociación y no síndrome. Se presenta el caso de una niña recién nacida con asociación VACTERL y síndrome de Moebius asociados a exposición prenatal a misoprostol en el primer trimestre del embarazo y, dado el mecanismo teratogénico del misoprostol, se propone un origen vascular de la asociación VACTERL.

Misoprostol, a synthetic analogue of prostaglandin E1, has been associated with an increased risk of occurrence of the Moebius syndrome (congenital paralysis of the seventh cranial nerve that may be associated with involvement of other cranial nerves or of other systems) and crossterminal limb defects in pregnancies in which mothers used this drug during the first trimester of pregnancy. Vascular disruption has been proposed as a teratogenic mechanism of misoprostol. The VACTERL association is the statistically non-random co-occurrence of vertebral defects, vascular anomalies, anal atresia, cardiac abnormalities, tracheo-esophageal fistula with esophageal atresia, radial and renal dysplasia, and other limb anomalies. There is no evidence for a unifying cause for the co-occurrence of VACTERL malformations, so this condition is still called an association and not a syndrome. We report the case of a newborn girl with VACTERL association and Moebius syndrome associated with prenatal exposure to misoprostol in the first trimester of pregnancy. Given the teratogenic mechanism of misoprostol, we propose a vascular origin for VACTERL association.