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Recognition of the fetal alcohol syndrome in early infancy.
Pattern of malformation in offspring of chronic alcoholic mothers.
Epidemiology of fetal alcohol syndrome in a South African community in the Western Cape Province.
Fetal alcohol syndrome initiatives that incorporate innovative sampling and active case ascertainment methods can be used to obtain timely and accurate data among developing populations.
The 11q terminal deletion disorder: A prospective study of 110 cases
- P. Grossfeld, T. Mattina, Christopher Jones
- Medicine, PsychologyAmerican Journal of Medical Genetics. Part A
- 15 August 2004
A comprehensive set of recommendations for the clinical management of patients with the 11q terminal deletion disorder is provided, including a molecular analysis of the deletion breakpoints in 65 patients from which genetic “critical regions” for 14 clinical phenotypes are defined, as well as for the neuropsychiatric profiles.
Birth outcomes in pregnant women taking fluoxetine.
- C. Chambers, K. Johnson, L. Dick, R. Felix, K. Jones
- MedicineNew England Journal of Medicine
- 3 October 1996
Women who take fluoxetine during pregnancy do not have an increased risk of spontaneous pregnancy loss or major fetal anomalies, but women who take the drug in the third trimester are at increased risk for perinatal complications.
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
It is suggested that the interactions of multiple gene products and/or environmental elements may determine the final phenotypic outcome for a given individual and that variations among these factors may cause the wide variability in the clinical features seen in HPE.
Abnormalities of the corpus callosum in children prenatally exposed to alcohol.
- E. Riley, S. Mattson, E. Sowell, T. Jernigan, D. Sobel, K. Jones
- MedicineAlcoholism: Clinical and Experimental Research
- 1 October 1995
The results suggest that prenatal exposure to high levels of alcohol is associated with abnormalities of the corpus callosum, and verify callosal agenesis in children with FAS, which previously had only been noted in autopsy reports.
A decrease in the size of the basal ganglia in children with fetal alcohol syndrome.
- S. Mattson, E. Riley, E. Sowell, T. Jernigan, D. Sobel, K. Jones
- MedicineAlcoholism, clinical and experimental research
- 1 September 1996
Volumetric analyses demonstrated significant reductions in the cerebral vault, basal ganglia, and diencephalon in the children with fetal alcohol syndrome, compared with control children, which may relate to behavioral findings in both humans and animals exposed to alcohol prenatally.
Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review.
- H. Hoyme, L. Seaver, K. Jones, F. Procopio, W. Crooks, M. Feingold
- MedicineAmerican journal of medical genetics
- 2 October 1998
Results of a prospective multicenter clinical study of the incidence and nature of neoplasia in children evaluated because of isolated hemihyperplasia support a tumor surveillance protocol for children with IHH similar to that performed in other syndromes associated with overgrowth.
Central nervous system anomalies associated with meningomyelocele, hydrocephalus, and the Arnold-Chiari malformation: reappraisal of theories regarding the pathogenesis of posterior neural tube…
The frequency and pattern of brain malformations associated with neural tube defects of some children with meningomyelocele suggest that such mal Formations may seriously affect intellectual outcome.