Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Szabó, L; Kocsis, K; Hollódy, K; Soroncz, M; Erwa, W; Andits, M.
DOOR (deafness, onychodystrophy, osteodystrophy, mental retardation) syndrome].
Orv Hetil. 2004; 145(22):1183-1187
(- Case Report)
PubMed
- Co-Autor*innen der Med Uni Graz
- Erwa Wolfgang
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- Abstract:
- Authors highlight the difficulties of syndrome identification through reporting the first case of DOOR syndrome in Hungary (the 28th case worldwide). The awareness and appropriate weighing of the importance of vestigial nails (onychodystrophy) was crucial for the correct diagnosis. Based on the normal level of 2-oxoglutarate excretion, the patient can be categorized as type 2. This is associated with better survival, which does not mean a substantial difference in quality of life. Although, prenatal diagnosis is not possible at present, knowledge of the enzyme defect and detection of the reduced activity of the 2-oxoglutarate dehydrogenase E1 component may provide an opportunity. If parents opt to have another child, a 25% risk is to be taken into account.
- Find related publications in this database (using NLM MeSH Indexing)
- Abnormalities, Multiple -
- Biomarkers - blood
- Deafness -
- Foot Deformities, Congenital - radiography
- Hand Deformities, Congenital - radiography
- Humans -
- Infant -
- Intellectual Disability -
- Male -
- Nails, Malformed -
- Syndrome -