Abstract
Objective A 10-years-old girl with Schimke immuno-osseous dysplasia(SIOD)was reported and a literature review presented to provide clinical and genetic information of this rare disease. Methods Retrospective analysis of a case of SIOD in Capital Institute of Pediatrics was reported. The patient and her parents′ DNA were extracted from blood for detecting SMARCALl gene mutation. Literatures of the disease were reviewed. Results The patient was a ten-years-old girl who admitted because ofslow growth in height for 3 years . Her stature was 123 cm( T(p.Q149X)and c. 1933C>T(p.R645C)compound heterozygous mutation. A novel nonsense c. 445C>T(p.Q149X)was found. One reported missense mutations c. 1933C>T(p.R645C)was detected. We reviewed literatures and found that there were 4 confirmed cases in China including this one. All the 4 cases had the characteristic of short stature, special facial features, osseous dysplasia, pigmentations in body, and proteinuria. However the severity of the disease and genetic changes are not the same. Conclusion When a patient was admitted because of short stature, diagnosis of SIOD should be suspected if he or she also had special facial feature, osseous dysplasia, cafe-au-lait spots, and proteinuria. Gene test is a tool to help us to make a definite diagnosis of SIOD. (Chin J Endocrinol Metab, 2017, 33: 111-115) Key words: Schimke immuno-osseous dysplasia; Short stature; SMARCALl gene
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
