Hydrolethalus (Salonen‐Herva‐Norio) syndrome: Further clinicopathological delineation

Abstract

Two brothers with severe CNS abnormalities, cleft lip/palate, polydactyly, and lung hypoplasia are reported as examples of the hydrolethalus syndrome, an autosomal recessive disorder. Death from cardiopulmonary arrest occurred in patient 1 at age 4 months and in patient 2 at age 17 days. Detailed radiological and neuropathological description is provided on patient 2. We recommend realtime ultrasonography and, when indicated, fetoscopy for antenatal detection of the craniofacial and limb malformations associated with this syndrome.