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She was born with a severe malformation of her face and was also diagnosed with the rare condition Holoprosencephaly as her brain had not formed properly.
DIAGNOSIS Alobar holoprosencephaly with cyclopia DISCUSSION The holoprosencephalies are a group of disorders that develop as a result of abnormal differentiation and cleavage of the prosencephalon.
It comes four years after the death of Laura's first child which was born with an extremely rare condition known as holoprosencephaly.
Terminated cases, because of associated severe / lethal extra-cardiac pathologies (Group A) Pathological classification n = 39 Clinical diagnosis (n) Chromosomal pathologies 23 Trisomy 21 (n=13), trisomy 18 (n=8), trisomy 13 (n=2) Genitourinary pathologies 6 Bilateral renal agenesis (n=2), multicystic dysplastic kidneys associated with oligo- / anhydramnios (n=4) Central nervous system 7 Anencephaly (n=1), pathologies holoprosencephaly (n=2), hemivertebra (n=l), vermis agenesis (n=1), neural tube defect (n=2) Other 3 Severe generalized hydrops / septated cystic hygroma (n=3) Table 3.
Mutations in Shh or inhibitions of cholesterol synthesis lead to holoprosencephaly (the condition characterized by a lack of division of the forebrain into right and left hemispheres).
age Development Dorsal induction 5-6 wks Closure of neural tube Ventral induction 7-12 wks Formation of brain segments and face Migration and 12-24 wks Migration of neurons from histiogenesis periventricular germinal matrix to cortex; cortical organisation Myelination 24 wks-3 Myelination yrs Stage Anomalies Dorsal induction Anencephaly, encephalocoele, Chiari malformation, spina bifida Ventral induction Holoprosencephaly, corpus callosum agenesis, vermian agenesis, facial abnormalities Migration and Gray matter heterotopias (e.
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).