Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
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AED-Associated Major Congenital Abnormalities
Pediatric Neurology Briefs, 1999 The risk of major congenital abnormalities associated with maternal antiepileptic drug (AED) therapy during the first trimester of pregnancy was determined in 1,411 children born between 1972 and 1992 in four provinces in the Netherlands, and compared to
J Gordon Millichap
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Arterial dysgenesis and limb defects : Clinical and experimental examples [PDF]
, 2017 Acknowledgements This article is dedicated to Dr David S. Packard Jr. With thanks to Dr John DeSesso, Dr Lewis B. Holmes, Dr Mark Levinsohn, Dr David S.
Hootnick, David R., Vargesson, Neil
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Abdominal Problems in Children with Congenital Cardiovascular Abnormalities
Balkan Medical Journal, 2015 Background: Congenital cardiovascular abnormality is an important cause of morbidity and mortality in childhood. Both the type of congenital cardiovascular abnormality and cardiopulmonary bypass are responsible for gastrointestinal system problems ...
Lütfi Hakan Güney +5 more
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Assessment of Molecular Cytogenetic Methods for the Detection of Chromosomal Abnormalities [PDF]
, 2006 Some marker chromosomes and chromosome rearrangements are difficult to identify using G-bands by Giemsa staining after trypsin treatment (G-banding) alone.
Maruyama, Hidehiko +5 more
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Multiple Congenital Heart Abnormalities
Acta Medica Bulgarica, 2019 Congenital heart abnormalities are rare and most often occur separately. These structural and functional disorders can cause a range of diseases that vary in severity, from mild or even asymptomatic to severe and life-threatening.
Lazarov S., Bogdanov G., Nikolov R.
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Laparoscopic Cervico Vaginal Reconstruction Using Sigmoid Graft in Patients with Cervicovaginal Agenesis and Functional Uterus: A Case Report for the First Time in the World [PDF]
مجله علوم پزشکی صدرا, 2021 Introduction:.Various methods have been proposed to treat Cervicovaginal agenesis with the functional uterus, but unfortunately, some of these methods eventually lead to a hysterectomy.
Saeed Alborzi, Elham Askari
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Congenital muscular dystrophy: from muscle to brain. [PDF]
, 2016 Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G +7 more
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Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2
The Turkish Journal of Pediatrics, 2017 Laminin α2 related congenital muscular dystrophy is one of the most common congenital muscular dystrophies of childhood with or without clinical evidence of central nervous system involvement.
Uluç Yiş +8 more
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Anomalous Retro-Psoas Iliac Artery: A Case Report
대한영상의학회지, 2020 The anomalous retro-psoas iliac artery is an extremely rare congenital iliolumbar vascular anomaly. A 51-year-old woman presented to our emergency department with worsening right lower extremity pain and weakness for 3 months.
Beum Jin Kim, Youngjun Kim
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