Results 41 to 50 of about 22,740 (218)
Herlyn-Werner-Wunderlich Syndrome: Pre-and Post-Surgical MRI and US Findings [PDF]
, 2015 Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare congenital anomaly of the female urogenital tract that associates Müllerian duct anomalies with mesonephric duct anomalies.
Jogo, R, Lopes Dias, J
core +1 more source
Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill +5 more
wiley +1 more source
Scimitar syndrome with renal agenesis
North American Journal of Medical Sciences, 2012 Partial pulmonary venous connection anomaly is relatively uncommon form of congenital heart diseases. The quite rare combination of this anomaly with hypoplasia of the right lung and dextroposition of the heart is designated as scimitar syndrome. Most cases are presented in infantile period and adult presentation is exceedingly rare.
Kahraman, Hasan +3 more
openaire +3 more sources
Arthrogryposis: A Rare Manifestation in Infant of Diabetic Mother [PDF]
, 2009 Arthrogryposis multiplex congenita is characterized by non-progressive, multiple joint contractures present at birth. The major cause of arthrogryposis is fetal akinesia due to fetal abnormalities like neurogenic, muscle, connective tissue abnormalities ...
Kumar, Arvind +2 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
It's not always varicocele: A strange case of Zinner syndrome [PDF]
, 2015 A 42-year-old man presented with a huge varicocele. The patient was completely asymptomatic and he did not complain of dysuria, perineal discomfort, or ejaculatory pain.
Bertolotto, Michele +5 more
core +2 more sources
Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics
British Journal of Clinical Pharmacology, EarlyView.Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay +5 more
wiley +1 more source
Pediatrics and Neonatology, 2012 Herlyn-Werner-Wunderlich (HWW) syndrome is a rare variant of Müllerian duct anomalies consisting of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis.
Tsung-Hsin Wu +6 more
doaj +1 more source
Intra-uterine fetal demise caused by amniotic band syndrome after standard amniocentesis [PDF]
, 2000 The amniotic band syndrome represents a prime example of exogenous disruption of an otherwise normal feta I development. It may be a sequel of invasive diagnostic procedures such as amniocentesis or fetal blood sampling. A 38-year-old gravida II, para II
Bauerfeind, I. +4 more
core +1 more source
Journal of Clinical Ultrasound, EarlyView.The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Grazia Volpe +11 more
wiley +1 more source