RT Journal Article
SR Electronic
T1 Aase-Smith syndrome type II
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 2004
OP 2006
VO 25
IS 12
A1 Murat Soker
A1 Orhan Ayyildiz
A1 Abdurrahman Isikdogan
YR 2004
UL http://smj.org.sa/content/25/12/2004.abstract
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.