Aase-Smith syndrome type II

Authors

• Murat Soker, Unit of Hematology, Department of Pediatrics, University of Dicle, Diyarbakir, Turkey. Tel. +90 (412) 2488001. Fax. +90 (412) 2488440. E-mail: sokerm{at}hotmail.com
• Orhan Ayyildiz, Department of Hematology-Oncology, University of Dicle, Diyarbakir, Turkey.
• Abdurrahman Isikdogan, Department of Hematology-Oncology, University of Dicle, Diyarbakir, Turkey.

Abstract

Aase-Smith syndrome type II is rare in childhood and there are few reported cases. Here, we report an 8-month-old boy with congenital red cell aplasia and triphalangeal thumbs. In addition to thumb anomalies, he presented with growth failure, hypertelorism and novel osseous radiologic abnormalities, large fontanelles and micrognathia as extraordinary. Some clinical symptoms had complete clinical remission with deflazacort treatment.

Article Type

Case Report

First Page

2004

Last Page

2006

Recommended Citation

Soker, Murat; Ayyildiz, Orhan; and Isikdogan, Abdurrahman (2004) "Aase-Smith syndrome type II," Saudi Medical Journal: Vol. 25: Iss. 12, Article 44.
DOI: https://doi.org/10.15537/1658-3175.2744