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Aase-Smith syndrome type II
Murat Soker1, Orhan Ayyildiz, Abdurrahman Isikdogan
1Unit of Hematology, Department of Pediatrics, University of Dicle, Diyarbakir, Turkey. sokerm@hotmail.com
Saudi Medical Journal
|February 16, 2005
Summary
Aase-Smith syndrome type II, a rare childhood disorder, presented in an infant with red cell aplasia and thumb abnormalities. Treatment with deflazacort led to remission of some symptoms.
Area of Science:
- Pediatric Hematology
- Clinical Genetics
- Rare Diseases
Background:
- Aase-Smith syndrome type II is a rare genetic disorder.
- Few cases are reported, particularly in childhood.
- Congenital red cell aplasia and triphalangeal thumbs are key features.
Purpose of the Study:
- To report a novel case of Aase-Smith syndrome type II in an infant.
- To describe the unique clinical and radiological features.
- To evaluate the therapeutic response to deflazacort.
Main Methods:
- Case report of an 8-month-old boy.
- Clinical examination and diagnostic imaging.
- Treatment with deflazacort and symptom monitoring.
Main Results:
- The patient exhibited congenital red cell aplasia, triphalangeal thumbs, growth failure, hypertelorism, large fontanelles, micrognathia, and unusual osseous abnormalities.
- Deflazacort treatment resulted in complete clinical remission of some symptoms.
Conclusions:
- This case expands the phenotypic spectrum of Aase-Smith syndrome type II.
- Deflazacort may be a potential therapeutic option for managing certain symptoms.
- Further research is needed to understand the pathophysiology and treatment.