Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder
This 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 lung...
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| Format: | Article |
| Language: | English |
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MDPI AG
2025-01-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/15/2/202 |
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| author | Valerica Belengeanu Diana Marian Horia Ademir Stana Carolina Cojocariu Cristina Popescu Ioana Elena Lile |
| author_facet | Valerica Belengeanu Diana Marian Horia Ademir Stana Carolina Cojocariu Cristina Popescu Ioana Elena Lile |
| author_sort | Valerica Belengeanu |
| collection | DOAJ |
| description | This 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. |
| format | Article |
| id | doaj-art-4175a79140b14ffd96ed58099aeb1dfc |
| institution | Kabale University |
| issn | 2075-4418 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj-art-4175a79140b14ffd96ed58099aeb1dfc2025-01-24T13:29:05ZengMDPI AGDiagnostics2075-44182025-01-0115220210.3390/diagnostics15020202Hydrolethalus Syndrome: A Case of a Rare Congenital DisorderValerica Belengeanu0Diana Marian1Horia Ademir Stana2Carolina Cojocariu3Cristina Popescu4Ioana Elena Lile5Department of Medicine, Faculty of Medicine, “Vasile Goldiș” Western University of Arad, 94-96 Revolutiei Blvd., 310025 Arad, RomaniaDepartment of Dentistry, Faculty of Dentistry, “Vasile Goldiș” Western University of Arad, 94-96 Revolutiei Blvd., 310025 Arad, RomaniaDepartment of Medicine, Faculty of Medicine, “Vasile Goldiș” Western University of Arad, 94-96 Revolutiei Blvd., 310025 Arad, RomaniaDepartment of Dentistry, Faculty of Dentistry, “Vasile Goldiș” Western University of Arad, 94-96 Revolutiei Blvd., 310025 Arad, RomaniaFaculty of Pharmacy, “Vasile Goldiș” Western University of Arad, 94-96 Revolutiei Blvd., 310025 Arad, RomaniaDepartment of Dentistry, Faculty of Dentistry, “Vasile Goldiș” Western University of Arad, 94-96 Revolutiei Blvd., 310025 Arad, RomaniaThis 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.https://www.mdpi.com/2075-4418/15/2/202hydrolethalus syndromepolyhydramniospalate cleftlabial cleftmicrognathiaskeletal anomalies |
| spellingShingle | Valerica Belengeanu Diana Marian Horia Ademir Stana Carolina Cojocariu Cristina Popescu Ioana Elena Lile Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder Diagnostics hydrolethalus syndrome polyhydramnios palate cleft labial cleft micrognathia skeletal anomalies |
| title | Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder |
| title_full | Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder |
| title_fullStr | Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder |
| title_full_unstemmed | Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder |
| title_short | Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder |
| title_sort | hydrolethalus syndrome a case of a rare congenital disorder |
| topic | hydrolethalus syndrome polyhydramnios palate cleft labial cleft micrognathia skeletal anomalies |
| url | https://www.mdpi.com/2075-4418/15/2/202 |
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