Results 1 to 10 of about 806 (59)
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
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
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
Ultrasound in Obstetrics &Gynecology, Volume 61, Issue 1, Page 12-25, January 2023., 2023 ABSTRACT Objectives To compare the reported rate of any congenital anomaly and perinatal outcome of pregnancy following blastocyst‐ vs cleavage‐stage embryo transfer using a pairwise meta‐analysis and to evaluate the same outcomes following fresh‐blastocyst, frozen‐blastocyst, fresh‐cleavage or frozen‐cleavage embryo transfer using a network meta ...
C. Siristatidis +6 more
wiley +1 more source
Fatores maternos e neonatais associados às anomalias congênitas
Revista de Enfermagem da Universidade Federal de Santa Maria, 2023 Objetivo: analisar os fatores maternos e neonatais associados às anomalias congênitas no estado do Rio Grande do Sul. Método: estudo transversal com dados secundários. A amostra foi composta por 5.830 nascidos vivos entre 2012 a 2015.
Franciela Delazeri Carlotto +2 more
doaj +1 more source
JCRPE, 2021 Objective:In small for gestational age (SGA) children, catch-up growth could be influenced by methylation of several genes involved in metabolism. Epigenetics may influence the development of metabolic diseases in adulthood. To compare the methylation of
Mario Angulo +9 more
doaj +1 more source