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encephalocele
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encephalocele
encephalocele Med. (ɛnˈsɛfələʊˌsiːl) [f. Gr. ἐγκέϕαλο-ς the brain + κήλη tumour.] ‘Protrusion of a portion of the brain through a preternatural opening in the skull’ (Syd. Soc. Lex.).1835–6 Todd Cycl. Anat. I. 744/1 That malformation termed encephalocele. 1878 T. Bryant Pract. Surg. I. 239 In the tr...
Oxford English Dictionary
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Encephalocele
The severity of encephalocele varies, depending on its location. Giant occipitocervical encephalocele.
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Iniencephaly
The more severe group is iniencephaly apertus (open iniencephaly), involving the development of an encephalocele. In the other group, iniencephaly clausus (closed iniencephaly), the encephalocele is absent.
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hydrencephalocele
hydrencephalocele Path. (haɪdrɛnˈsɛfələʊsiːl) [f. hydro- b + encephalocele.] An encephalocele containing serous liquid.1854 Mayne Expos. Lex., Hydrencephalocele, term for hydrocephalic tumour or hernia. 1878 T. Bryant Pract. Surg. I. 239 In a hydrencephalocele..there will be a portion of one or both...
Oxford English Dictionary
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Nidogen-1
Clinical significance
Mutations in NID1 cause autosomal dominant Dandy–Walker malformation with occipital encephalocele (ADDWOC).
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meningo-
meningo- (mɪˈnɪŋgəʊ) combining form of Gr. µῆνιγξ meninx in a number of pathological and other terms, of which the following are the most important: meˈningocele (-siːl) [cf. cele n.], hernia of the meninges of the brain or spinal cord; meˌningo-cereˈbritis = meningo-encephalitis; meˌningoˈcoccal, -...
Oxford English Dictionary
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Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome
Signs and symptoms
Individuals with this condition exhibit the following symptoms:
Agenesis or hypoplasia of the corpus callosum
Encephalocele
Holoprosencephaly
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Nasal glial heterotopia
If there is a concurrent cerebrospinal fluid (CSF) leak, then an encephalocele is much more likely. Epidemiology
Nasal glial heterotopia is rare, while an encephalocele is uncommon.
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Rostral neuropore
In less severe situations it may lead to different forms of encephalocele (i.e. cranium bifidum). There are three forms of cranium bifidum: mengocele, meningo-encephalocele and meningohydro-encephalocele.
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Type XVIII collagen
in vision and eye structure, some of which include high myopia, vitreoretinal degeneration, retinal detachment, macular abnormalities, and occipital encephalocele
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Knobloch syndrome
Knobloch syndrome is also characterised by cataracts, dislocated lens with skull defects such as occipital encephalocele and occipital aplasia. Encephalocele is a neural tube defect where the skull has not completely closed and sac-like protrusions of the brain can push through the skull; (it can
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Meckel–Gruber syndrome
Meckel-Gruber syndrome is a rare, lethal ciliopathic genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations (occipital encephalocele Occipital encephalocele is present in 60% to 80% of all cases, and post-axial polydactyly is present in 55% to 75% of the total number of identified cases
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颅骨裂和有关畸形的症状是什么?
颅骨裂和有关畸形主要表现为囊性膨出,统称为脑膨出(encephalocele或cephalocele)。因膨出大小、部位不同而表现各异 。典型的脑膨出诊断并不困难。常规X线头颅摄片显然已不能满足诊断的需要,CT和MRI应作为首选诊断方法。
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Pai syndrome
abnormalities
Bifid uvula
Hypertelorism
Telecanthus
List of uncommon symptoms:[2]
Missing/underdeveloped corpus callosum
Down-slanting palpebral fissures
Encephalocele
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颅骨裂和有关畸形的发病原因?
脊柱裂和有关畸形,早期闭合不全表现为严重的颅脑畸形,如裂枕露脑畸形(iniencephaly),露脑畸形(exencephaly)和无脑畸形(anencephaly),较晚的闭合不全常形成脑膜膨出(meningocele)或脑膜脑膨出(meningoencephalocele),为叙述方便,一般统称为脑膨出(encephalocele 膨出的脑组织可以正常,也可以萎缩,膨出多位于正中线,发生在鼻根部的脑膜膨出常伴有眶距增宽(hyperrhinoplaty或hypertelorism),隐性颅裂很少见,不形成明显的囊性膨出,包括先天性上皮窦,先天性颅裂和基底脑膨出(rudimentary encephalocele)。
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