Background Congenital malformations can be manifested as combinations of phenotypes
that co-occur more often than expected by chance. In many such cases, it has proved difficult …

Congenital heart diseases are a common prenatal finding. The prenatal identification of an
associated genetic syndrome or a major extracardiac anomaly helps to understand the …

The management of patients with neurogenic lower urinary tract dysfunction has been well-
described, however this is most frequently discussed for common conditions such as spinal …

Decades of clinical, pathological, and epidemiological study and the recent application of
advanced microarray and gene sequencing technologies have led to an understanding of …

Vertebral malformations (VMs) are caused by alterations in somitogenesis and may occur in
association with other congenital anomalies. The genetic etiology of most VMs remains …

Introduction Primary cilia play pivotal roles in the patterning and morphogenesis of a wide
variety of organs during mammalian development. Here we examined murine foregut …

Anorectal malformations (ARM) without a fistula are a rare congenital condition. Although
may seem more simple to repair compared with ARM with fistulas, surgery has proved to be …

The combination of vertebral, anal, cardiac, tracheo‐esophageal, renal and limb anomalies
termed VACTERL association, also referred to as VATER, has been used as a clinical …

Purpose Screening investigations for the vertebral, anorectal, cardiac, tracheo-oesophageal,
renal and limb (VACTERL) association form an important part of the management of …

Vertebral malformations (VMs) pose a significant global health problem, causing chronic
pain and disability. Vertebral defects occur as isolated conditions or within the spectrum of …