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Causes of Congenital Malformations
, 2023 Congenital malformations are structural abnormalities due to faulty development, present at birth, and amongst the major causes of prenatal, perinatal and infant mortality and morbidity.
Willemsen, Michèl +6 more
core
Challenges of congenital malformations: an African perspective [PDF]
, 2018 Background: Congenital malformations are defects of morphogenesis of organs or body regions identifiable during the intrauterine life or after birth. The etiological factors proposed have varied in history based on prevailing understanding, culture, and ...
Emordi, Victor C., Osifo, David O.
core +1 more source
An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula +8 more
wiley +1 more source
High mortality due to congenital malformations in children aged < 1 year in French Guiana
BMC Pediatrics, 2018 Background In French Guiana, pregnant women may be exposed to infectious, environmental, and social risks leading to congenital malformation. The objective of the study was to study mortality rates from congenital malformations among infants
Mathieu Nacher +4 more
doaj +1 more source
A PECULIAR CONGENITAL MALFORMATION. [PDF]
JAMA: The Journal of the American Medical Association, 1906 In July, 1905, I attended M. D. in confinement, the labor being in every respect normal. The woman gave birth to a healthy, robust boy, which gave a lusty cry before fully born and seemed to be normal in every way. I cut the cord and laid the child by while the mother was being attended to.
openaire +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright +10 more
wiley +1 more source
Basic and Clinical Neuroscience, 2015 Introduction: Diabetes mellitus is associated with nervous system alterations in both human and animal models. This study was done to determine the effect of gestational diabetes on the Purkinje and granular cells in the cerebellum of rat offspring.&
Elahe Mirarab Razi +2 more
doaj
Meaning and Clinical Interest of Minor Malformations and Normal Variants in Neonatology
Balkan Journal of Medical GeneticsCongenital malformations can be found in all organ systems of a newborn. Almost two-thirds of congenital malformations have an unknown cause. There are minor (mM) and major (MM) congenital malformations.
Grubeša Raguž S +6 more
doaj +1 more source
Spinal Involvement in Charge Syndrome: Implications for Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes +5 more
wiley +1 more source