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A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly.
|Title||A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly.|
|Publication Type||Journal Article|
|Year of Publication||2004|
|Authors||Stashinko EE, Clegg NJ, Kammann HA, Sweet VT, Delgado MR, Hahn JS, Levey EB|
|Journal||American journal of medical genetics. Part A|
|Date Published||2004 Jul 15|
Holoprosencephaly (HPE) is a brain malformation resulting from a primary defect in development of the basal forebrain during early gestation. Prenatal genetic and environmental factors and birth outcomes were described in a population of 104 children with holoprosencephaly referred to three clinical centers from 1998 through 2002. The mean child age was 4 years. Of cases karyotyped, 9% presented with a chromosomal abnormality. This study of living children with holoprosencephaly, the majority of whom are cytogenetically normal, provides new information on the subsample of children with a less severe phenotype. Most children were born at term; about 51% were microcephalic at birth. Consistent with previous research, the association between HPE and maternal history of diabetes merits further investigation. Several findings have important implications for future research. Only 22% of the children in this study sample were diagnosed with holoprosencephaly prenatally. The vast majority of children (72%) were diagnosed with HPE between birth and 1 year of age. Also, 19% of the cases referred to the Carter Centers with HPE were not confirmed on scan review. When possible, future population-based epidemiological studies should emphasize mechanisms that identify children with HPE outside of the newborn period and confirm the diagnosis by review of MRI or high quality CT brain scan.
|Alternate Journal||Am. J. Med. Genet. A|