نتایج جستجو برای: holoprosencephaly
تعداد نتایج: 755 فیلتر نتایج به سال:
Holoprosencephaly (HPE) is a common developmental defect involving the brain and face in humans. Cytogenetic deletions in patients with HPE have localized one of the HPE genes (HPE2) to the chromosomal region 2p21. Here we report the molecular genetic characterization of nine HPE patients with cytogenetic deletions or translocations involving 2p21. We have determined the parental origin of the ...
The MR scans of six pediatric patients with apparent atypical callosal dysgenesis (presence of the dorsal corpus callosum in the absence of a rostral corpus callosum) were critically analyzed and correlated with developmental information in order to assess the anatomic, embryologic, and developmental implications of this unusual anomaly. Four patients had semilobar holoprosencephaly; the dorsal...
We describe a 6-month-old boy suffering from motor and mental retardation. All radiological features were suggestive of holoprosencephaly with no identifiable lateral or third ventricles and fusion of the thalami.
A case of holoprosencephaly is reported in which the mother was prescribed high doses of oestroprogestins during the first 5 months of the pregnancy. Investigation of the family failed to reveal any sign of physical abnormality. A normal karyotype was detected in the proband. The authors suggest that this case may shed some light on the normal and abnormal way in which embryonic fields develop.
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