Hypospadias: Prevalence, birthweight and associated major congenital anomalies.

The aim of this study was to determine the prevalence of hypospadias over 24 years in a Danish population and to describe the relation to birthweight and associated major congenital anomalies. It is a population-based study of all cases (live births, fetal deaths and elective terminations of pregnancy) with hypospadias born in the period 1986-2009 in Funen County and reported to the EUROCAT registry of congenital anomalies. Cases were included only if surgery for hypospadias was performed. 223 cases of hypospadias were registered during the period 1986-2009 with an overall prevalence of 16.9 per 10 000 births. The prevalence was significantly higher in 2000-2009 compared to 1986-1999 (P < 0.001). We found a three times higher occurrence of VLBW (very low birthweight) infants among cases with hypospadias. Infants with isolated hypospadias were more likely to have mild hypospadias (68%) while cases with associated major congenital anomalies were less likely to have mild hypospadias (42%) (P < 0.05). Hypospadias was associated with VLBW and the severity of the defect was related to the presence of major congenital anomalies. The prevalence of hypospadias has increased during the study period. The relation to VLBW could indicate a causal relationship for hypospadias or a shared pathogenic factor.

[Mowat-Wilson syndrome: a report of three Danish cases]. / Mowat-Wilson-syndrom hos tre danske børn.

Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and urinary tract anomalies. Some cases also present epilepsy, growth retardation and microcephaly. The syndrome is caused by mutations or deletions of the ZEB2 gene at chromosome 2q22-q23. MWS was first described in 1998 and until now approximately 180 cases have been reported worldwide. We report the first three molecularly confirmed Danish cases with MWS.