DOI: 10.3390/diagnostics15020202 ISSN: 2075-4418
Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder
Valerica Belengeanu, Diana Marian, Horia Ademir Stana, Carolina Cojocariu, Cristina Popescu, Ioana Elena LileThis is a fatal case of multiple complicated congenital anomalies displaying several symptoms consistent with hydrolethalus syndrome. The newborn’s phenotype is characterized by a combination of serious anatomical abnormalities such as open-book cerebral hemispheres, defective lobulation of the lungs (one lobe on the left, two on the right), a smaller right kidney, a smooth cerebral surface, and a specific keyhole-shaped defect in the skull base, primarily associated with hydrocephalus.