Meckel Gruber syndrome associated with anencephaly—an unusual reported case
| Autor: | Houda Nasser Al Yaqoubi, Nishat Fatema |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty Occipital encephalocele Developmental Malformations Polydactyly business.industry Incidence (epidemiology) Case Report 030105 genetics & heredity medicine.disease Microbiology Renal cystic dysplasia 03 medical and health sciences Infectious Diseases Anencephaly Medicine Parasitology business Meckel-Gruber Syndrome |
| Zdroj: | Oxford Medical Case Reports |
| ISSN: | 2053-8855 |
| DOI: | 10.1093/omcr/omx092 |
| Popis: | Meckel–Gruber syndrome (MGS) is a rare and lethal ciliopathic disorder, with the incidence ranging between 1 in 13 000–400 000 live births. MGS is characterized by multisystem developmental malformations with the classical features of renal cystic dysplasia, occipital encephalocele and post-axial polydactyly. Except for occipital encephalocele, the CNS abnormalities associated with MGS that are less frequently reported include hydrocephaly, anencephaly or malformation of cerebellum. Our presented case of MGS is associated with anencephaly and other facial abnormalities. This kind of ailment is infrequently reported in literature. |
| Databáze: | OpenAIRE |
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