We identified a germline mutation in the DUOX2 gene, associated with congenital hypothyroidism, as a potential risk factor of PTC. Additionally, we characterized distinct molecular subtypes, BRAF-RAS ...

Children with neurofibromatosis often have a bowing (bending) of the tibia that has a distinctive orientation - an anterolateral bow (toward the front) - that may lead to fracture and pseudarthrosis.

Further, such variation in CoD has never been assessed in growing bones. We hypothesised that CoD varied significantly within the same cross-section of the mid-tibia of adolescents. We further ...

Congenital conditions include fibular hemimelia, congenital bowing of the tibia, congenital short femur, hemiatrophy or hemihypertrophy. Russel Silver Syndrome is another condition that leads to limb ...

The author has completed the ICMJE form and reports no conflicts of interest. Congenital thrombotic thrombocytopenic purpura (TTP) is a rare, hereditary disorder. Clinically it presents as episodic ...

Severe fetal anaemia of unknown aetiology can present a diagnostic challenge. Rare causes of fetal anaemia include congenital sideroblastic anaemia (CSA), a rare group of disorders that typically ...

The simple syndactylies are not, however, associated with other congenital malformations (2) and do not require further investigation than the normal assessment during the examination of the newborn ...