Results 21 to 30 of about 1,141,952 (120)
OBJECTIVE: To investigate the effect of parity on Down syndrome (DS). METHODS: The study was conducted on data from Northeast Italy (NEI) (1981-1996) and Sicily (ISMAC) (1991-1996) Congenital Malformation Registries.
Working Group on Down Syndrome +4 more
core +1 more source
Exploring face perception in disorders of development: evidence from Williams syndrome and autism [PDF]
Individuals with Williams syndrome (WS) and autism are characterized by different social phenotypes but have been said to show similar atypicalities of face-processing style.
Riby, Deborah +2 more
core +1 more source
Prevalence of Metabolic Syndrome in Psychiatric Inpatients: A Naturalistic Study [PDF]
The aim of this naturalistic survey was to measure the prevalence of metabolic syndrome by collating data on routine physical investigation in an acute psychiatric inpatient population.
Batugedara, Anuja +4 more
core +2 more sources
Scimitar syndrome in infancy [PDF]
Scimitar syndrome, if presenting in infancy, is associated with signs of heart failure and pulmonary hypertension. The typical pathological features are sequestration of a segment of the lung, usually the right lower lobe, with arterial supply ...
Sreeram, Narayanswami +3 more
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Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-CardioFacial syndrome) [PDF]
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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A case of neuroleptic malignant syndrome on withdrawal of benzhexol [PDF]
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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The development of metaphorical language comprehension in typical development and in Williams syndrome [PDF]
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. +8 more
core +1 more source
Gastric pseudoaneurysm in the setting of Loey’s Dietz Syndrome [PDF]
Loey’s Dietz syndrome is a disorder of connective tissue caused by a mutation in the genes that encode transforming growth factor (TGF) beta receptor 1 and 2.
Johston, Troy Alan, Likes, Maggie L.
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My Life, My Future - Evaluation of Down's Syndrome Scotland Life Story Project [PDF]
Background My Life My Future project was developed and delivered by Down’s Syndrome Scotland as an enjoyable family activity with the aim of producing an output that can serve as a valuable communication tool now and in the future.
Mattheys, Kate, Watchman, Karen
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Aortic arch tortuosity with PHACE syndrome : a rare case scenario [PDF]
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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