title: [X-chromosomal recessive hydrocephalus internus: a separate disease picture? 2 further case reports and review of the literature].
abstract: Two patients with X-chromosomal hydrocephalus internus (aqueduct stenosis, clasped thumbs, mental retardation and spasticity) habe been described. In both cases the family history revealed further affected relatives. The intra- and interfamilial variability of this rare X-chromosomal recessive disease will be demonstrated. In this context differentialdiagnoses like X-linked MASA syndrome and X-linked spastic paraplegia have been discussed on the basis of a variable expressivity of different mutations in the same gene.
authors.affiliation: Zentrum für Kinderheilkunde, Universität Bonn.
authors.forename: F
authors.initials: F
authors.lastname: Haverkamp
authors.forename: A
authors.initials: A
authors.lastname: Krämer
authors.forename: H
authors.initials: H
authors.lastname: Fahnenstich
authors.forename: K
authors.initials: K
authors.lastname: Zerres
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002535:Cerebral Aqueduct / Q000002:abnormalities; D002547:Cerebral Palsy / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D004453:Echoencephalography; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009460:Neurologic Examination; D011247:Pregnancy; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D016216:Ultrasonography, Prenatal; D017287:Ventriculoperitoneal Shunt; D014960:X Chromosome
vernacular_title: X-chromosomaler rezessiver Hydrocephalus internus: Ein eigenständiges Krankheitsbild? 2 weitere Fallberichte und Literaturübersicht.