PT  - JOURNAL ARTICLE
AU  - Soker, Murat
AU  - Ayyildiz, Orhan
AU  - Isikdogan, Abdurrahman
TI  - Aase-Smith syndrome type II
DP  - 2004 Dec 01
TA  - Saudi Medical Journal
PG  - 2004--2006
VI  - 25
IP  - 12
4099  - http://smj.org.sa/content/25/12/2004.short
4100  - http://smj.org.sa/content/25/12/2004.full
SO  - Saudi Med J2004 Dec 01; 25
AB  - 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.