Diastematomyelia in two sisters.
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.
Balci
S
S
Department of Clinical Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Caglar
K
K
Eryilmaz
M
M
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