An Asian girl with a ???milder??? form of the Hydrolethalus syndrome

Publisher Website
Google Scholar
Abstract
Hydrolethalus syndrome is an autosomal recessive disorder characterized by hydrocephalus, micrognathia, limb anomalies and several other abnormalities, mostly in the midline structures. The syndrome was first described in Finland, where the incidence is approximately 1 in 20000. All of the Finnish patients were stillborn or died during the first day of life. Only three non-Finnish cases have survived beyond the neonatal period. Here, we report the first Oriental girl with a 'milder' form of hydrolethalus syndrome. The patient died at age 44 days making her the fourth reported case surviving beyond the neonatal period. The case supports the concept of a 'milder' form of the syndrome. Whether this spectrum is due to allelism or locus heterogeneity awaits molecular analysis.