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holoprosencephaly

   Also found in: Acronyms, Wikipedia 0.01 sec.
holoprosencephaly /holo·pros·en·ceph·a·ly/ (-pros″en-sef´ah-le) developmental failure of cleavage of the prosencephalon with a deficit in midline facial development and with cyclopia in the severe form; sometimes due to trisomy 13.
hol·o·pros·en·ceph·a·ly (hl-prsn-sf-l, hl-)
n.
Failure of the forebrain to divide into hemispheres or lobes causing insufficient development of facial characteristics such as the nose, lips, and palate; in severe cases, cyclopia can occur.

holoprosencephaly
[hol′ōpros′ensef′əlē]
Etymology: Gk, holos + pro, before, enkephalos, brain
a congenital defect caused by the failure of the prosencephalon to divide into hemispheres during embryonic development. It is characterized by multiple midline facial defects, including cyclopia in severe cases. It can also be caused by an extra chromosome in the 13-15 or D group, manifested as one of many developmental defects. See also trisomy 13. holoprosencephalic, holoprosencephalous, adj.

holoprosencephaly [hol″o-pros″en-sef´ah-le]
a developmental anomaly consisting of failure of cleavage of the prechordal mesoderm with a deficit in the forebrain and midline facial development; in the severe form there may be cyclopia. It is sometimes associated with trisomy 13 syndrome.
The facial features in holoprosencephaly. The eyes are close together and there is a midline cleft lip. From Mueller and Young, 2001.

holoprosencephaly (hō´lōpros´n-sef´lē),
n a congenital defect caused by the failure of the prosencephalon to divide into hemispheres during embryonic development. It is characterized by multiple midline facial defects, including cyclopia in severe cases.

holoprosencephaly
developmental failure of cleavage of the prosencephalon with a deficit in midline facial development and with cyclopia in the severe form.


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She was later diagnosed with Holoprosencephaly and had to be fitted with a tracheostomy tube to aid her breathing and a gastrostomy to feed.
Absence of the anterior portion of the corpus callosum with presence of the posterior portion only result from dysgenesis associated with holoprosencephaly and when there is a focal cortical infarct with fibres that cross through the anterior corpus callosum (local atrophy).
Chapters cover: chromosomal translocations and fusion genes in human soft tissue, carrier screening for B-Thalassemia, genetic testing for late-onset disorders, lobar holoprosencephaly and behavioral disorders, medullary thyroid cancer as a paradigm for genetic screening of inherited cancers, and learning disabilities in low birth weight children.
 
 
 
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