Congenital lumbosacral lipomas can be responsible for progressive defects. The general
feeling is that tethering of roots, filum, or cord probably explains this evolution, and that …

Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum
typically involving sacral vertebrae S2-S5 only. Associated features include anorectal …

Holoprosencephaly (HPE) is a common developmental defect of the forebrain and
frequently the midface in humans, with both genetic and environmental causes. HPE has a …

Partial absence of the sacrum is a rare congenital defect which also occurs as an autosomal
dominant trait; association with anterior meningocoele, presacral teratoma and anorectal …

Malformations are common causes of pediatric morbidity and mortality, and genetic factors
are a significant component of their etiology. Autosomal deletions, in almost all cases, cause …

Anorectal malformations (ARMs) are among the most common congenital anomalies,
accounting for 25% of digestive malformations that require neonatal surgery. ARMs have …

OEIS complex refers to a combination of defects consisting of omphalocele, exstrophy of the
cloaca, imperforate anus, and spinal defects. Possible embryologic mechanisms proposed …

BACKGROUND/PURPOSE: The Currarino syndrome (CS) is a peculiar form of caudal
regression syndrome (CRS) characterized by the association of hemisacrum, anorectal …

The HLXB9 homeobox gene was recently identified as a locus for autosomal dominant
Currarino syndrome, also known as hereditary sacral agenesis (HSA). This gene specifies a …

Anorectal malformation (ARM) is a congenital anomaly commonly encountered in pediatric
surgery practice. Although surgical procedures correct the anatomical anomalies, the post …