Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome.

Chromosomal abnormalities on the short arm of chromosome 2 in the region p11.2 have been associated with developmental delay, intellectual disability, facial anomalies, abnormal ears, skeletal and genital malformations. Here we describe a patient with a de novo interstitial heterozygous microdeletion on the short arm of chromosome 2 in the region p11.

A Deep Learning Method for Quantification of Femoral Head Necrosis Based on Routine Hip MRI for Improved Surgical Decision Making.

(1) Background: To evaluate the performance of a deep learning model to automatically segment femoral head necrosis (FHN) based on a standard 2D MRI sequence compared to manual segmentations for 3D quantification of FHN. (2) Methods: Twenty-six patients (thirty hips) with avascular necrosis underwent preoperative MR arthrography including a coronal 2D PD-w sequence and a 3D T1 VIBE sequence. Manual ground truth segmentations of the necrotic and unaffected bone were then performed by an expert reader to train a self-configuring nnU-Net model.