We report two patients with Beare-Stevenson syndrome. This syndrome presents craniosynostosis with or without clover-leaf skull, craniofacial anomalies, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, genital and anal anomalies. Both female newborn patients presented at birth with craniofacial anomalies, variable cutis gyrata in forehead and preauricular regions, prominent umbilical stump and anogenital anomalies. Furrowed palms and soles were also observed. The radiologic examination showed a cloverleaf-form craniosynostosis. Chromosomes were normal. They were born with respiratory distress and were connected to mechanical ventilation for ventilatory support. Both of them died in 50 days after birth due to secondary complications. The molecular analysis of these patients identified the mutation Tyr375Cys in the FGFR2 gene.
Rare diseases (RDs) cause considerable death and disability in Latin America. Still, there is no consensus on their definition across the region. Patients with RDs face a diagnostic odyssey to find a correct diagnosis, which may last many years and creates a burden for caregivers, healthcare systems, and society. These diagnostic delays have repercussions on the health and economic burden created by RDs and continue to represent an unmet medical need. This review analyzes barriers to the widespread adoption of newborn screening (NBS) programs and early diagnostic methods for RDs in Latin America and provides recommendations to achieve this critical objective. Increasing the adoption of NBS programs and promoting early diagnosis of RDs are the first steps to improving health outcomes for patients living with RDs. A coordinated, multistakeholder effort from leaders of patient organizations, government, industry, medical societies, academia, and healthcare services is required to increase the adoption of NBS programs. Patients’ best interests should remain the guiding principle for decisions regarding NBS implementation and early diagnosis for RDs.
RESUMENAproximadamente 15% de todos los embarazos clínicos terminan en aborto espontáneo. La causa más frecuente de aborto espontáneo es una anomalía cromosómica fetal, tal como una trisomía autosómica, monosomía X y poliploidía. Desde mayo de 1991 hasta febrero de 2013 hemos realizado 2.416 estudios citogenéticos en restos de aborto en la Sección Citogenética del Laboratorio Clínico de Clínica Alemana de Santiago, Chile. Deseamos compartir la información sobre la distribución de los hallazgos en estos estudios, así como difundir la estrategia que hemos implementado desde febrero de 2010 con estudio de varias sondas de hibridación in situ con fluorescencia (FISH) en aquellos casos en que el cultivo no ha progresado, lo que permite entregar alguna información importante respecto a la presencia o ausencia de ciertas alteraciones cromosómicas en todos los estudios. PALABRAS CLAVE: Aborto espontáneo, citogenética, aneuploidía, FISH SUMMARYApproximately 15% of all clinical pregnancies end in spontaneous abortion. The most common cause of spontaneous abortion is a fetal chromosomal abnormality, such as an autosomal trisomy, monosomy X and polyploidy. From May 1991 until February 2013 we performed 2,416 cytogenetic studies in abortion tissues in the Cytogenetics Unit of the Clinical Laboratory Clínica Alemana de Santiago. We want to share information about the distribution of the findings in these studies, and want to disseminate the strategy we have implemented since February 2010 with multiple probes study of fluorescence in situ hybridization (FISH) in cases where the tissue culture had not progressed, allowing to provide some important information regarding the presence or absence of certain chromosomal abnormalities in all studies. KEY WORDS: Spontaneous abortion, cytogenetics, aneuploidy, FISH INTRODUCCIÓNEl aborto espontáneo es la complicación más frecuente del embarazo. Entre 10 a 15% de todos los embarazos clínicamente reconocidos resulta en un aborto espontáneo (1). Alrededor de un 5% de todas las parejas enfrentará pérdida reproductiva recurrente, es decir, dos o más abortos espontá-neos (2,3). La mitad de los abortos del primer trimestre son causados por anomalías cromosómicas fetales diagnosticadas por técnicas convencionales; el 20% de los abortos del 2° trimestre tiene una alteración citogenética.Los estudios citogenéticos han mostrado que REV CHIL OBSTET GINECOL 2014; 79(1): 40 -46
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