title: Diastematomyelia in two sisters.
abstract: Diastematomyelia is a rare spinal cord anomaly that usually occurs in a non-syndromal, sporadic manner; however, few familial cases have been reported. We report on diastematomyelia in 2 sisters with variable expressivity. The spinal column is divided by osseous or fibrous tissue. This may be responsible for the variable expressivity. Most cases previously reported were females. This suggests X-linked dominant inheritance with lethality in hemizygous males or female sex limitation of a multifactorial trait.
authors.affiliation: Department of Clinical Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: S
authors.initials: S
authors.lastname: Balci
authors.forename: K
authors.initials: K
authors.lastname: Caglar
authors.forename: M
authors.initials: M
authors.lastname: Eryilmaz
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D016136:Spina Bifida Occulta / Q000235:genetics / Q000473:pathology*; D013116:Spinal Cord / Q000473:pathology