Results 1 to 10 of about 19,803 (154)
Sistemas de vigilancia de anomalías congénitas en América Latina y el Caribe: presente y futuro [PDF]
Revista Panamericana de Salud Pública, 2019 Objetivos. Conocer la disponibilidad de los sistemas nacionales de vigilancia de anomalías congénitas en América Latina y el Caribe y describir sus características. Métodos. Estudio transversal mediante una encuesta semiestructurada y autoadministrada en
Pablo Durán +8 more
doaj +2 more sources
PREVALÊNCIA DE ANOMALIAS CONGÊNITAS E FATORES ASSOCIADOS EM RECÉM-NASCIDOS DO MUNICÍPIO DE SÃO PAULO NO PERÍODO DE 2010 A 2014 [PDF]
Revista Paulista de Pediatria, 2017 RESUMO Objetivo: Estudar a prevalência de anomalias congênitas em nascidos em maternidades do município de São Paulo, no período de 2010 a 2014, assim como analisar possíveis fatores associados às anomalias.
Henrique Willian Cosme +2 more
doaj +2 more sources
El conjunto mínimo básico de datos al alta hospitalaria como fuente de información para el estudio de las anomalías congénitas [PDF]
Revista Española de Salud Pública, 1999 FUNDAMENTO: El objetivo del estudio es evaluar la validez de los diagnósticos informatizados de alta hospitalarios de anomalías congénitas, comparándolos con la información contenida en la historia clínica.
Alba Moratilla Nieves +2 more
doaj +1 more source
Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A
Frontiers in Genetics, 2023 Congenital muscular dystrophy type 1A (CMD1A) is a rare autosomal recessive disorder caused by mutations in the LAMA2 gene. CMD1A is characterized by peripheral hypotonia and muscle weakness from the first months of life, cerebral white matter ...
Natalia Diaz-Lombana +7 more
doaj +1 more source
Scientific Reports, 2023 Up to 40% of rare disorders (RD) present facial dysmorphologies, and visual assessment is commonly used for clinical diagnosis. Quantitative approaches are more objective, but mostly rely on European descent populations, disregarding diverse population ...
Luis M. Echeverry-Quiceno +10 more
doaj +1 more source
Frontiers in Genetics, 2023 Craniofrontonasal Syndrome is a very rare dominant X-linked genetic disorder characterized by symptoms such as hypertelorism, craniosynostosis, eye alterations, bifid nose tip, and longitudinal ridging and splitting of nails.
Harry Pachajoa +4 more
doaj +1 more source
Ultrasound in Obstetrics &Gynecology, Volume 62, Issue 6, Page 778-787, December 2023., 2023 ABSTRACT Objectives Congenital knee dislocation (CKD) is a rare condition, affecting 1 in 100 000 newborns. Its prenatal diagnosis is challenging and not well described in the literature, especially when it appears isolated and not as part of a complex malformation or syndromic pattern. The purpose of this study was to provide a comprehensive review of
P. I. Cavoretto +7 more
wiley +1 more source
Amniotic band syndrome and limb body wall complex in Europe 1980–2019
American Journal of Medical Genetics Part A, Volume 191, Issue 4, Page 995-1006, April 2023., 2023 Abstract Amniotic band syndrome (ABS) and limb body wall complex (LBWC) have an overlapping phenotype of multiple congenital anomalies and their etiology is unknown. We aimed to determine the prevalence of ABS and LBWC in Europe from 1980 to 2019 and to describe the spectrum of congenital anomalies.
Jorieke E. H. Bergman +35 more
wiley +1 more source
Prevalence and mortality among children with anorectal malformation: A multi‐country analysis
Birth Defects Research, Volume 115, Issue 3, Page 390-404, February 1, 2023., 2023 Abstract Purpose We examined the total prevalence, trends in prevalence, and age‐specific mortality among individuals with anorectal malformation (ARM) Methods We conducted a retrospective cohort study using data from 24 population‐ and hospital‐based birth defects surveillance programs affiliated with the International Clearinghouse for Birth Defects ...
Vijaya Kancherla +30 more
wiley +1 more source
Boletín Médico del Hospital Infantil de México, 2022 Background: Congenital heart defects (CHD) are among the most frequent manifestations of 22q11.2 deletion syndrome. Although we found relatively few studies aimed at specifically detecting 22q11.2 deletion in newborns (NB) with CHD, none of them has been
Gerardo E. Fabián-Morales +9 more
doaj +1 more source