نتایج جستجو برای: ventricle hypoplasia
تعداد نتایج: 45242 فیلتر نتایج به سال:
Goltz syndrome or focal dermal hypoplasia is a rare syndrome with mesoectodermal hypoplasia. This syndrome is an X-linked dominant disorder with involvement of the cutaneous, ocular, dental and skeletal systems. The most significant feature of this disease is connective tissue dysplasia. Here, we report a 30-year old woman who presented with congenital unilateral linear atrophic areas on her tr...
binder’s syndrome is an uncommon entity characterized by midfacial hypoplasia along with class iii incisal relationship. the individuals with this syndrome are easily recognizable and the syndrome is mostly associated with other malocclusions. the current article presents two cases of this rare syndrome and describes its general features. key words: binder’s, midfacial hypoplasia, maxillofacial...
We report on a female patient with Dandy-Walker malformation possibly caused by heterozygous loss of ZIC1 and ZIC4. The patient presented with mental retardation, epilepsy, and multiple congenital malformations including spina bifida, mild dysmorphic facial features including, thick eyebrows, broad nose, full lips, macroglossia, and hypoplasia of the cerebellar vermis with enlargement of the fo...
L1 is a neural cell adhesion molecule mainly involved in axon guidance and neuronal migration during brain development. Mutations in the human L1 gene give rise to a complex clinical picture, with mental retardation, neurologic abnormalities and a variable degree of hydrocephalus. Recently, a transgenic mouse model with a targeted null mutation in the L1 gene was generated. These knockout (KO) ...
Ebstein’s anomaly accounts for 0.5% of all congenital heart diseases. The condition is characterized by >8 mm/m2 displacement of the septal and posterobasal tricuspid leaflets toward the apex of the right ventricle (RV). This causes “atrialization” of the RV inflow tract, with decreased size of the RV and right atrial (RA) dilatation. The anterior valve is rarely displaced, but tends to be larg...
Aicardi’s syndrome consists of infantile spasms, defects of the corpus callosum, dorsal vertebral anomalies, and chorioretinal lacunar defects. The etiology is, as yet, unknown. The most likely cause, however, is an X-linked mutational event that is lethal in males. This paper presents a girl 3 years 8 months old with Aicardi's syndrome who received corticotropin therapy for intractable seizure...
Neurocutaneous melanosis (NCM) is a rare congenital syndrome consisting of benign or malignant melanotic tumors of the central nervous system with large or numerous cutaneous melanocytic nevi. The Dandy-Walker complex (DWC) is characterized by an enlarged posterior fossa with high insertion of the tentorium, hypoplasia or aplasia of the cerebellar vermis, and cystic dilatation of the fourth ven...
Loss of Foxc1 is associated with Dandy-Walker malformation, the most common human cerebellar malformation characterized by cerebellar hypoplasia and an enlarged posterior fossa and fourth ventricle. Although expressed in the mouse posterior fossa mesenchyme, loss of Foxc1 non-autonomously induces a rapid and devastating decrease in embryonic cerebellar ventricular zone radial glial proliferatio...
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