A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.
Lynch SA, Bond PM, Copp AJ, Kirwan WO, Nour S, Balling R, Mariman E, Burn J, Strachan T.
Lynch SA, et al. Among authors: bond pm.
Nat Genet. 1995 Sep;11(1):93-5. doi: 10.1038/ng0995-93.
Nat Genet. 1995.
PMID: 7550324
Free article.
The radiological hallmark of hereditary sacral agenesis is a hemi-sacrum (sickle-shaped sacrum) with intact first sacral vertebra. Bowel obstruction is the usual neonatal presentation, but, unlike other neural tube defects, adult presentation is not uncommon. ...
The radiological hallmark of hereditary sacral agenesis is a hemi-sacrum (sickle-shaped sacrum) with intact first sacral vertebra. Bo …