| Main clinical features
|
polydactyly and central nervous system malformation, ventricles open to the subarachnoid space and external hydrocephalus, foramen magnus keyhole shaped, polydactyly is postaxial in the hands and preaxial in the feet, clubfeet, mandible always small and nose poorly formed, eyes hypoplastic, large AV communis defect of the heart, lethal
brain pathology, clearly belonging to the midline patterning defects, and seems to be unique for the hydrolethalus syndrome and combines features of disturbed neurulation, prosencephalization, and migration (Paetau 2008) |