Published 2017
| Version v1
Journal article
What is behind Nikolai' choan atresia and other abnormalities?
Creators
- 1. Zentrum Medizinische Genetik, Kepler Universitaetsklinikum, Linz (Austria)
- 2. Detska klinika LF UK a DFNsP, Bratislava (Slovakia)
Description
CHARGE syndrome is a genetic disorder characterized by choanal atresia, coloboma of the eye, and ear and cranial nerve abnormalities. Case report presents a story about a nine month old child with CHARGE syndrome and choan atresia, skin and bone defect in parietal region and hypacusis. The case report highlights the development of diagnostical criteria for precise diagnosis and a management of the syndrome. (author)
Additional details
Additional titles
- Original title (Slovak)
- Co sa skryva za Nikolasovou atreziou choan a inymi zmenami?
Publishing Information
- Journal Title
- Pediatria Pre Prax
- Journal Volume
- 18
- Journal Issue
- 3
- Journal Page Range
- p. 123-125
- ISSN
- 1339-4231
INIS
- Country of Publication
- Slovakia
- Country of Input or Organization
- Slovakia
- INIS RN
- 49051128
- Subject category
- S62: RADIOLOGY AND NUCLEAR MEDICINE;
- Descriptors DEI
- COMPUTERIZED TOMOGRAPHY; DIAGNOSIS; DISEASES; GENE MUTATIONS; GENETICS; RADIOLOGY; SURGERY
- Descriptors DEC
- BIOLOGY; DIAGNOSTIC TECHNIQUES; MEDICINE; MUTATIONS; NUCLEAR MEDICINE; TOMOGRAPHY
Optional Information
- Notes
- 5 refs., 1 fig., 2 tabs.