Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-CardioFacial syndrome) [PDF]
, 2005 Deletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is characterized by congenital heart defect (CHD), palatal anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities. CHD is present
Marino, Bonnie +3 more
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The development of metaphorical language comprehension in typical development and in Williams syndrome [PDF]
, 2010 The domain of figurative language comprehension was used to probe the developmental relation between language and cognition in typically developing individuals and individuals with Williams syndrome.
Thomas, Michael S.C. +5 more
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A case of neuroleptic malignant syndrome on withdrawal of benzhexol [PDF]
, 2010 The neuroleptic malignant syndrome is a rare and potentially lethal reaction which is usually associated with the use of medications with antidopaminergic properties.
Ferry, Peter +2 more
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Aortic arch tortuosity with PHACE syndrome : a rare case scenario [PDF]
, 2016 PHACE syndrome is a rare neurocutaneous disorder characterised by an association of infantile haemangiomas with structural anomalies of brain, cerebral vasculature, eye, aorta and chest wall.1 Coarctation of aorta (COA) is most the common cardiac anomaly
Baidwan, A. +5 more
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Complex regional pain syndrome in a competitive athlete and regional osteoporosis assessed by dual-energy X-ray absorptiometry: a case report. [PDF]
, 2014 Dual-energy X-ray absorptiometry is rarely utilized in the clinical care of patients with complex regional pain syndrome, but may be useful for the non-invasive determination of regional bone fragility and fracture risk, as well as muscular atrophy and ...
Mark I Johnson +3 more
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Mediterranean diet and the metabolic syndrome [PDF]
, 2009 Mediterranean diet and the metabolic syndrome Background: The metabolic syndrome refers to a clustering of risk factors including abdominal obesity, hyperglycaemia, low HDL-cholesterol, hypertriglyceridaemia, and hypertension and it is a risk factor ...
Bos, M.B.
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, 2019 This chapter provides a thorough overview of Beckwith-Wiedemann syndrome, which is considered to be the most common of the overgrowth syndromes and imprinting disorders.
Flavia Cerrato +9 more
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Correlation of total cholesterol and protein in urine in patients with the nephrotic syndrome [PDF]
, 1980 The excretion of protein and cholesterol in 24 h urine was measured in 42 patients with the nephrotic syndrome.
Wallner, J. +2 more
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Fetal alcohol syndrome; guidelines for referral and diagnosis [PDF]
National Center on Birth Defects and Developmental Disabilities in coordination with National Task Force on Fetal Alcohol Syndrome and Fetal Alcohol Effect (American Academy of Pediatrics, American College of Obstetricians and Gynecologists, March of ...
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Understandings of Down's syndrome and their place in the prenatal testing context [PDF]
, 2003 INTRODUCTION: There is a growing consensus that decisions about prenatal testing should a) be informed, and b) reflect the individual's attitudes and values.
Bryant, Louise Dorothy
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