[Sacrum abnormalities and neural tube closure defect: different manifestations of a same genetic disease?].
The authors report the case of a full-term female infant exhibiting an anterior meningocele, combined with a hemi-sacrum and an anal dysfunction. Both her father and brother had the same although less pronounced abnormalities. The father's sister was anencephalic. This case, together with previously published data, suggests that sacrum malformations and neural tube defects may derive from a unique dominant autosomal gene with variable expressivity.
Cavero Vargas
E
E
Service de néonatologie et de réanimation néonatale, hôpital E-Herriot, Lyon, France.
Plauchu
H
H
Rebaud
A
A
Claris
O
O
Chappuis
J P
JP
Mellier
G
G
Salle
B
B
D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008588:Meningocele / Q000150:complications; D009436:Neural Tube Defects / Q000150:complications / Q000235:genetics*; D012447:Sacrum / Q000002:abnormalities* / Q000196:embryology
Anomalies du sacrum et déficit de fermeture du tube neural: manifestations différentes d'une même maladie génétique?