We report two female siblings with dysmorphic face and a distinctive pattern of multiple congenital anomalies. The older sibling died shortly after birth and presented with an absence of left hemidiaphragm, pulmonary hypoplasia, left ventricle hypoplasia, intestinal malrotation and multiple renal cysts. The second sibling is 10 years old and presents with failure to thrive, mental retardation, agenesia of the corpus callosum, obstruction of ureteropelvic junction of the right kidney, and minor abnormalities of the extremities. Both siblings showed a similar dysmorphic face. Their phenotype is similar to the newly recognized syndrome described by Donnai and Barrow(1993) and recently confirmed by Gripp et al. (1997). The main features of this autosomal recessive syndrome are: diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural hearing loss. None of the parents presented any of these characteristics and the chromosomes of our proband and both parents are normal. The strikingly similar appearance of both patients to the pictures published by Gripp et al. (1997) allowed us to establish the diagnosis. These two cases further confirm and expand the variable phenotype of this new syndrome.