PROTEINURIA IN A PATIENT WITH THE DIAPHRAGMATIC HERNIA-HYPERTELORISM-MYOPIA-DEAFNESS SYNDROME - FURTHER EVIDENCE THAT THE FACIO-OCULO-ACOUSTICO-RENAL SYNDROME REPRESENTS THE SAME ENTITY

We present a male infant with hypertelorism, severe myopia and sensori neural deafness, diaphragmatic hernia, and proteinuria. This patient c ombines features of two distinct genetic conditions, the syndrome of d iaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism , myopia, and sensorineural deafness (MIM 222448), and the facio-oculo -acoustico-renal syndrome (MIM 227290), which is characterised by simi lar anomalies, with the additional finding of proteinuria, but without diaphragmatic hernia. The present observations further suggest that t hese syndromes are the variable expression of a single autosomal reces sive disorder.