Biomaterial Database

Autosomal recessive hydrocephalus with aqueductal stenosis. 1996

M Castro-Gago, and A Alonso, and J Eirís-Puñal

Departamento de Pediatría, Hospital General de Galicia, Santiago de Compostela, Spain.

We report the case histories of three sisters with congenital hydrocephalus associated with stenosis of the cerebral aqueduct. The parents were a young consanguineous couple. In two cases hydrocephalus was detected before birth by ultrasonography. We consider these three cases to be of the rare autosomal form of hereditary hydrocephalus.

UI	MeSH Term	Description	Entries
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D011296	Prenatal Diagnosis	Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.	Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D002535	Cerebral Aqueduct	Narrow channel in the MESENCEPHALON that connects the third and fourth CEREBRAL VENTRICLES.	Aqueduct of Sylvius,Aqueductus Cerebri,Mesencephalic Aqueduct,Mesencephalic Duct,Sylvian Aqueduct,Aqueduct, Cerebral,Aqueduct, Mesencephalic,Aqueduct, Sylvian,Aqueducts, Cerebral,Aqueducts, Mesencephalic,Aqueducts, Sylvian,Aqueductus Cerebrus,Cerebral Aqueducts,Cerebri, Aqueductus,Cerebrus, Aqueductus,Duct, Mesencephalic,Ducts, Mesencephalic,Mesencephalic Aqueducts,Mesencephalic Ducts,Sylvian Aqueducts,Sylvius Aqueduct
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003251	Constriction, Pathologic	The condition of an anatomical structure's being constricted beyond normal dimensions.	Stenosis,Stricture,Constriction, Pathological,Pathologic Constriction,Constrictions, Pathologic,Pathologic Constrictions,Pathological Constriction,Stenoses,Strictures
D005260	Female		Females
D005808	Genes, Recessive	Genes that influence the PHENOTYPE only in the homozygous state.	Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006849	Hydrocephalus	Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA.	Communicating Hydrocephalus,Congenital Hydrocephalus,Obstructive Hydrocephalus,Post-Traumatic Hydrocephalus,Aqueductal Stenosis,Cerebral Ventriculomegaly,Fetal Cerebral Ventriculomegaly,Hydrocephalus Ex-Vacuo,Hydrocephaly,Aqueductal Stenoses,Cerebral Ventriculomegalies,Cerebral Ventriculomegalies, Fetal,Cerebral Ventriculomegaly, Fetal,Fetal Cerebral Ventriculomegalies,Hydrocephalus Ex Vacuo,Hydrocephalus Ex-Vacuos,Hydrocephalus, Communicating,Hydrocephalus, Congenital,Hydrocephalus, Obstructive,Hydrocephalus, Post-Traumatic,Post Traumatic Hydrocephalus,Stenoses, Aqueductal,Stenosis, Aqueductal,Ventriculomegalies, Cerebral,Ventriculomegalies, Fetal Cerebral,Ventriculomegaly, Cerebral,Ventriculomegaly, Fetal Cerebral
D014057	Tomography, X-Ray Computed	Tomography using x-ray transmission and a computer algorithm to reconstruct the image.	CAT Scan, X-Ray,CT Scan, X-Ray,Cine-CT,Computerized Tomography, X-Ray,Electron Beam Computed Tomography,Tomodensitometry,Tomography, Transmission Computed,X-Ray Tomography, Computed,CAT Scan, X Ray,CT X Ray,Computed Tomography, X-Ray,Computed X Ray Tomography,Computerized Tomography, X Ray,Electron Beam Tomography,Tomography, X Ray Computed,Tomography, X-Ray Computer Assisted,Tomography, X-Ray Computerized,Tomography, X-Ray Computerized Axial,Tomography, Xray Computed,X Ray Computerized Tomography,X Ray Tomography, Computed,X-Ray Computer Assisted Tomography,X-Ray Computerized Axial Tomography,Beam Tomography, Electron,CAT Scans, X-Ray,CT Scan, X Ray,CT Scans, X-Ray,CT X Rays,Cine CT,Computed Tomography, Transmission,Computed Tomography, X Ray,Computed Tomography, Xray,Computed X-Ray Tomography,Scan, X-Ray CAT,Scan, X-Ray CT,Scans, X-Ray CAT,Scans, X-Ray CT,Tomographies, Computed X-Ray,Tomography, Computed X-Ray,Tomography, Electron Beam,Tomography, X Ray Computer Assisted,Tomography, X Ray Computerized,Tomography, X Ray Computerized Axial,Transmission Computed Tomography,X Ray Computer Assisted Tomography,X Ray Computerized Axial Tomography,X Ray, CT,X Rays, CT,X-Ray CAT Scan,X-Ray CAT Scans,X-Ray CT Scan,X-Ray CT Scans,X-Ray Computed Tomography,X-Ray Computerized Tomography,Xray Computed Tomography