UNASSIGNED: This study sought to analyze the computed tomography (CT) and magnetic resonance imaging (MRI) characteristics of the classical triad elements and the associated anomalies in pediatric complete Currarino syndrome (CS) to evaluate the advantages and disadvantages of the 2 different imaging methods in displaying the abnormalities of this disease.
UNASSIGNED: The clinical and radiological features of 32 pediatric patients with complete CS diagnosed histologically and/or radiologically were retrospectively analyzed.
UNASSIGNED: All 32 complete CS patients presented with the classical triad of congenital anorectal malformation (ARM), sacral agenesis, and presacral mass. Anal atresia, which is the most common congenital ARM, was observed in 19 of the 32 patients (59.4%). Sacral agenesis was mainly type IV (75%). Among the presacral masses, true tumors and pseudotumors accounted for about half each. All of the 15 true tumors were presacral teratomas. Twenty-five patients had associated anomalies, including tethered cord, filum lipoma, and hydronephrosis. Twenty-four patients underwent both CT and MRI examinations. While CT was better than MRI in displaying sacral anomaly (P<0.05), MRI was more sensitive than CT at detecting presacral mass, spinal dysraphism, and congenital anal atresia (P<0.05).
UNASSIGNED: CT and MRI have different efficiencies at displaying the abnormalities of the complete CS. As a non-invasive method, MRI has significant advantages in diagnosing complete CS, especially in revealing the details of ARM, presacral mass, and associated spinal dysraphism.

UNASSIGNED: A retrospective study.
UNASSIGNED: To identify if there is a link between sacral agenesis (SA) and post-operative coronal imbalance in patients with congenital lumbosacral deformities.
UNASSIGNED: This study reviewed a consecutive series of patients with congenital lumbosacral deformities. They had a minimum follow-up of 2 years. According to different diagnosis, they were divided into SA and non-SA group. Comparison analysis was performed between patients with and without post-operative coronal imbalance and risk factors were identified.
UNASSIGNED: A total of 45 patients (18 in SA group and 27 in non-SA group) were recruited into this study, among whom 33 patients maintained coronal balance while 12 demonstrated postoperative coronal imbalance at last follow-up (14.32 ± 7.67 mm vs 35.53 ± 3.91 mm, P < 0.001). Univariate analysis showed that preoperative lumbar Cobb angle, immediate postoperative coronal balance distance and diagnosis of SA were significantly different between patients with and without post-operative coronal imbalance (P < 0.05). Binary logistic regression analysis showed that SA was an independent risk factor for postoperative coronal imbalance.
UNASSIGNED: As an independent risk factor for postoperative coronal imbalance, high level of suspicion of SA should be aware in children with congenital lumbosacral deformities. Sufficient bone grafts at sacroiliac joint are recommended for SA patients to prevent postoperative coronal imbalance.

BACKGROUND: Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. CRS is a complex condition, attributed to an abnormal development of the caudal mesoderm, likely caused by the effect of interacting genetic and environmental factors. A well-known risk factor is maternal type 1 diabetes.
METHODS: Whole exome sequencing and copy number variation (CNV) analyses were conducted on 4 Caucasian trios to identify de novo and inherited rare mutations.
RESULTS: In this pilot study, exome sequencing and copy number variation (CNV) analyses implicate a number of candidate genes, including SPTBN5, MORN1, ZNF330, CLTCL1 and PDZD2. De novo mutations were found in SPTBN5, MORN1 and ZNF330 and inherited predicted damaging mutations in PDZD2 (homozygous) and CLTCL1 (compound heterozygous). Importantly, predicted damaging mutations in PTEN (heterozygous), in its direct regulator GLTSCR2 (compound heterozygous) and in VANGL1 (heterozygous) were identified. These genes had previously been linked with the CRS phenotype. Two CNV deletions, one de novo (chr3q13.13) and one homozygous (chr8p23.2), were detected in one of our CRS patients. These deletions overlapped with CNVs previously reported in patients with similar phenotype.
CONCLUSIONS: Despite the genetic diversity and the complexity of the phenotype, this pilot study identified genetic features common across CRS patients.