[DOOR (deafness, onychodystrophy, osteodystrophy, mental retardation) syndrome].
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.
Szombathely Megyei Jogú Város és a Vas megyei Onkormányzat Markusovszky Kórház Csecsemo- és Gyermekosztály.
László
L
Szabó
Katalin
K
Kocsis
Katalin
K
Hollódy
Márta
M
Soroncz
Wolfgang
W
Erwa
Miklós
M
Andits
D000015:Abnormalities, Multiple; D015415:Biomarkers / Q000097:blood; D003638:Deafness; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D009264:Nails, Malformed; D011859:Radiography; D013577:Syndrome
D015415:Biomarkers