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X-linked recessive mutations predominantly affect male fetuses with milder or no abnormalities in female siblings. Most reports show only one affected member in the family. We are reporting a family affected with hydrocephalus, stenosis of the aqueduct of Sylvius, dysgenesis of the corpus callosum, and Xp22.33 microduplication.
This article was published in the following journal.
Name: Gynecologic and obstetric investigation
Corpus callosum (CC) infarction is reported to be rare because of rich blood supply in the CC. The pathophysiology of CC infarction associated with acute hydrocephalus is unknown.
Intra-cranial lipomas are extremely rare fat-containing lesion, comprising 0.1 to 0.5 of all primary brain tumours. LoCCs constitute the commonest variety of all intra-cranial lipomas ( 40 to 50 % ) a...
Hydrocephalus patients experience symptoms related to hydrocephalus in an age-dependent manner. However, prevalence estimates of hydrocephalus symptoms in young and middle-aged (YMA) adult patients ar...
OBJECTIVEEmergence of CRISPR/Cas9 genome editing provides a robust method for gene targeting in a variety of cell types, including fertilized rat embryos. The authors used this method to generate a tr...
Low-pressure hydrocephalus (LPH) and negative-pressure hydrocephalus (NegPH), secondary to traumatic brain injury, cerebral hemorrhage, tumor resection and central nervous system (CNS) infection in ad...
The purpose of this study is to assess the neurological development at three years of age of children born after prenatal diagnosis of "isolated" agenesis of the corpus callosum.
Hydrocephalus (secondary or idiopathic) is a condition characterized by dilatation of the lateral and third ventricles, and often associated with increased intracranial pressure (ICP). We ...
Agenesis of the corpus callosum (ACC) is one of the most frequent cerebral malformations and is now diagnosed prenatally in most cases. Prenatal counseling is then challenging because of u...
The overall aim of the registry is to develop a longitudinal, observational database that is focused on adult patients with Normal Pressure Hydrocephalus (NPH) that can be used as a source...
The purpose of this study is to determine whether endoscopic choroid plexus coagulation is safe in adult patients with communicating hydrocephalus and risk factors for complications from t...
The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration. The syndrome is sometimes called "pure gonadal dysgenesis," but this designation may also refer to gonadal dysgenesis with a 46,XY karyotype (GONADAL DYSGENESIS, 46,XY).
Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
This type of gonadal defect is characterized by a female phenotype, normal to tall stature, bilateral streak or dysgenetic gonads, and a 46,XY karyotype. This XY gonadal dysgenesis is a heterogenous condition with variant forms resulting from a structural abnormality on Y chromosome, a mutation in SRY gene or a mutation in autosomal genes. The syndrome is sometimes called "pure gonadal dysgenesis," but this designation may also refer to gonadal dysgenesis with a 46,XX karyotype (GONADAL DYSGENESIS, 46,XX).
Set of nerve fibers that cross the midline of the TELENCEPHALON. They include the ANTERIOR COMMISSURE; the CORPUS CALLOSUM; and the HIPPOCAMPAL COMMISSURE of the fornix.
A rare genetic disorder characterized by partial or complete absence of the CORPUS CALLOSUM, resulting in infantile spasms, MENTAL RETARDATION, and lesions of the RETINA or OPTIC NERVE.