RESUMO
BACKGROUND: Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in fibroblast growth factor receptor FGFR1 and FGFR2 genes, occurring in approximately 1:100,000 live births. PS has a wide range of clinical expression and severity, so early prenatal diagnosis is difficult and genetic counseling is desirable. We describe a PS newborn with her ultrasound and molecular studies. CASE REPORT: We describe a female term newborn with cloverleaf-shaped skull, facial hypoplasia, low ears, exophthalmos and wide, broad and deviated thumbs and hallux. The patient was diagnosed by ultrasound at 29 WGA and referred to a tertiary care hospital for her follow-up. Molecular test revealed a heterozygous pathogenic variant in intron 8 of the FGFR2 gene (FGFR2: c.940-1G>C). It was a de-novo mutation. At 17 days of life, craniosynostosis correction and a Lefort-III frontomaxillary advancement were performed. CONCLUSION: Pfeiffer syndrome is a devastating genetic disorder. Prenatal diagnosis according PS morphological features in prenatal ultrasound allows timely genetic counseling, early referral to third-level centers, and close follow-up in the prenatal and postnatal stages.
RESUMO
Introducción. Las susceptibilidades de las plantaciones al ataque de organismos dañinos pueden ocasionar efectos nocivos para su desarrollo, cuando se considera que el nivel de daños ocasionado no se puede tolerar, es indispensable determinar acertadamente la naturaleza del agente causal, sea éste tipo biótico o abiótico; la acertada determinación del agente de un problema fitosanitario en un vivero o plantaciones forestale, se fundamenta en un análisis detallado de los factores que la pueden estar afectando. Tabebuia rosea o Guayacán rosado es una especie forestal nativa de amplia aceptación en el mercado, que presenta durante su etapa de vivero, limitantes en las fases de germinación, emergencia y sobrevivencia, por lo anterior el objetivo de esta investigación era la de Identificar morfológicamente los posibles agentes patógenos asociados a Tabebuia rosea en etapa de vivero y comprobar su patogenicidad. Metodología. Se tomaron plántulas de vivero, las cuales se les realizo un análisis de los signos y los síntomas para el aislamiento y siembra de zonas afectadas en agar papa dextrosa. En el cultivo mixto se identificó los posibles agentes patógenos, los cuales fueron sembrados para obtener cultivos puros, y utilizados en la prueba de patogenicidad, para la inoculación de las estructuras sanas (hojas, peciolos y tallos) y su respectivo control. Resultados. Se identificaron tres géneros de hongos Colletotrichum, Mucor, y Candida, y un género de nematodo denominado Meloidogyne. La prueba de patogenicidad para Colletotrichum y Candida mostraron relaciones significativas en el proceso de infección principalmente en estructuras foliares. Se concluye en este trabajo dos nuevos posibles géneros patógenos para Tabebuia rosea evidenciados en la prueba de patogenicidad. Y se corrobora que el género Meloidogyne es un patógeno severo en el guayacán rosado que ocasiona anomalías morfológicas en la raíz; cabe resaltar que es el primer reporte para el departamento de Risaralda
Introduction. The susceptibilities of plantations to attack by harmful organisms can cause harmful effects for their development, when it is considered that the level of damage caused cannot be tolerated, it is essential to correctly determine the nature of the causal agent, be it biotic or abiotic; The correct determination of the agent of a phytosanitary problem in a nursery or forest plantations is based on a detailed analysis of the factors that may be affecting it. Tabebuia rosea or pink Guayacán is a native forest species widely accepted in the market, which presents, during its nursery stage, limitations in the germination, emergence and survival phases, therefore the objective of this research was to morphologically identify the possible pathogens associated with Tabebuia rosea in the nursery stage and check its pathogenicity. Methodology. Nursery seedlings were taken, which were analyzed for signs and symptoms for the isolation and sowing of affected areas on potato dextrose agar. In the mixed culture, possible pathogens were identified, which were sown to obtain pure cultures, and used in the pathogenicity test, for the inoculation of healthy structures (leaves, petioles and stems) and their respective control. Results. Three fungal genera Colletotrichum, Mucor, and Candida, and a nematode genus named Meloidogyne were identified. The pathogenicity test for Colletotrichum and Candida showed significant relationships in the infection process mainly in leaf structures. Two new possible pathogenic genera for Tabebuia rosea evidenced in the pathogenicity test are concluded in this work. And it is corroborated that the genus Meloidogyne is a severe pathogen in the pink guayacán that causes morphological anomalies in the root; It should be noted that it is the first report for the department of Risaralda