Bayoumi Abdelaty Emam <br/><br/>
Clinical, neuroimaging and genetic study in patients with ponto-cerebellar malformations /  
 دراسة اكلينيكية ودراسة الاشعة التصويرية للمخ والنتائج الوراثية لمرضى التشوهات بالجسر المخيخى 
Bayoumi Abdelaty Emam ; Supervised Sawsan Abdelhady Hassan , Ghada Mohamed Elhossiny Abdelsalam , Marian Yousry Fahmy  
 - Cairo :   Bayoumi Abdelaty Emam ,   2020 
 - 202 P . :   charts , facsmilies ;   25cm 
<br/><br/>Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Pediatrics 
<br/><br/> They represents a group of rare disorders with prenatal onset and clear evidence for time dependent loss of brain parenchyma, predominantly affecting growth and survival of neurons in the cerebellar cortex,the dentate,inferior olivary and ventral pontine nuclei.The variable involvement of supratentorial structures includes ventriculomegaly,neocortical atrophy and microcephaly.Radiologically and pathologically, they are characterized by hypoplasia and /or atrophy of the cerebellum and pons (Namavar et al.,2011).Pontocerebellar Hypoplasia (PCH) has emerged as distinct entity which includes 13 subtypes (PCH 1-13) until now. They are a group of AR neurodegenerative disorders with prenatal onset.Neuroradiological findings in all subtypes are PCH and/or atrophy of ventral pons,cerebellum 
<br/><br/>
<br/><br/><label>Subjects--Index Terms: </label>Genetic study  Neuroimaging Ponto-Cerebellar