Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family.

Haplo-insufficiency of the TGFβ-activated kinase 1 binding protein 2 (TAB2) gene is associated with short stature, facial dysmorphisms, connective tissue abnormalities, hearing loss, and cardiac disease. Skeletal dysplasia and sacral dimples are also found in a minority of patients. Here, we describe a 3-generation family with caudal appendage, other sacral anomalies, and skeletal abnormalities including hypoplasia of the iliac wings and scapulae, fusion of the carpal bones and stenosis of the spinal canal, as well as a remarkable course of prenatally-detected cardiomyopathy with characteristics changing over time.

CT-abnormalities, bacteriology and symptoms of sinonasal disease in children with Cystic Fibrosis.

Background: Sinonasal pathology in adults with Cystic Fibrosis (CF) is common but the extent of CT-abnormalities and symptoms of sinonasal disease in children with CF and the age of onset are less frequently studied.

Methods: In this observational, cross-sectional study 58 children with CF from two CF centres were included. All subjects completed a questionnaire regarding sinonasal symptoms, underwent a CT scan of the paranasal sinuses, and in each subject a culture of the upper airways was performed.

Painful paediatric hip: frog-leg lateral view only!

Objective: For hip complaints in the paediatric population, it is common practice to acquire both anteroposterior (AP) and frog-leg lateral (FL) radiographs. This combination of views provides a high diagnostic yield, but also doubles radiation exposure. We investigated the diagnostic accuracy of obtaining a solitary FL view as compared to a combination of the AP and FL view.

[A woman with a large mass in the breast].

A 45-year-old woman presented with a palpable mass in the right breast. Ultrasound and mammography showed a cystic mass measuring 5 cm, with a solid component. The diagnosis 'intraductal papilloma' was made, based on the histological findings after biopsy.