Results 71 to 80 of about 19,150 (213)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen +5 more
wiley +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Ultra-sonografia pré-natal no diagnóstico de aneurisma da veia de Galeno.
Acta Médica Portuguesa, 2010 Vein of Galen aneurysm is a rare congenital anomaly, originated from a defect in fusion of internal cerebral veins. Due to low resistance, it produces high debit cardiac insufficiency.
Lizarda Félix +6 more
doaj +1 more source
British Journal of Clinical Pharmacology, EarlyView.Aim Many women take medications during pregnancy. However, the risk to the fetus from most medications is uncertain. Congenital anomalies are one of the leading causes of infant death and contribute to long‐term disability. Signal detection methods can be used to systematically identify possible medication–anomaly associations that require further ...
Hannah Johnson +22 more
wiley +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2014 Objective: We describe a prenatal ultrasonography diagnosis of omphalocele and symbrachydactyly in a fetus and review the literature on prenatal diagnosis of 9p terminal chromosomal deletions.
Wen-Chien Hou +6 more
doaj +1 more source
Prenatal Diagnosis of a Rare Type of Conjoined Twin, Cephalothoracoomphalopagus: A Case Report
Bagcilar Medical Bulletin, 2021 Conjoined twins are a rare outcome of a monoamniotic and monochorionic gestation. We present a case of cephalothoracoomphalopagus conjoined twin diagnosed by prenatal ultrasonographic examination. A 26-year-old gravida 2, para 1 woman was referred to our
Yasin Ceylan +3 more
doaj +1 more source
EVALUATION OF THE INCIDENCE AND OUTCOME OF FETAL HYDRONEPHROSIS PRENATALLY DIAGNOSED BY ULTRASOUND [PDF]
The outcome and proper management of fetal hydronephrosis have not been completely defined. The purpose of this study was to determine incidence and outcome of infants with a history of prenatal hydronephrosis diagnosed by ultrasound.
رفاهی, سهیلا +2 more
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Defining Prenatal and Postnatal Ultrasonography Findings in a Patient who had Meconium Peritonitis and Pseudocyst Formation [PDF]
, 2012 Meconium peritonitis is a chemical peritonitis resulting from intrauterine of perforation of small bowel.16 years old 32-week gestational age woman referred us for rutin US.
Ebru Yılmaz +3 more
core +1 more source
BODY STALK ANOMALY (IN SPANISH)
Revista Ciencias Biomédicas, 2014 Introduction: the body stalk anomaly is an unusual syndrome characterized by anatomic defect in the wall of the abdomen and exit of the viscera of the abdominal cavity.
Redondo-De Oro Katherine +5 more
doaj
Prenatal diagnosis of limb abnormalities: role of fetal ultrasonography [PDF]
, 2009 Fetal ultrasonografy is the most important tool to provide prenatal diagnosis of fetal anomalies. The detection of limb abnormalities may be a complex problem if the correct diagnostic approch is not established.
Dinatale, Angela +5 more
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