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

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 Fin land, where the incidence is approximately 1 in 20 000. All of the Finnish patients were stillborn or died during the first day of life. Only three no n-Finnish cases have survived beyond the neonatal period. Here, we report t he first Oriental girl with a 'milder' form of hydrolethalus syndrome. The patient died at age 44 days making her the fourth reported case surviving b eyond the neonatal period. The case supports the concept of a 'milder' form of the syndrome. Whether this spectrum is due to allelism or locus heterog eneity awaits molecular analysis, Clin Dysmorphol 10: 51-55 (C) 2001 Lippin cott Williams & Wilkins.