Aase-Smith syndrome type II.
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.
Soker
Murat
M
Unit of Hematology, Department of Pediatrics, University of Dicle, Diyarbakir, Turkey. sokerm@hotmail.com
Ayyildiz
Orhan
O
Isikdogan
Abdurrahman
A
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D029503:Anemia, Diamond-Blackfan / Q000000981:diagnostic imaging / Q000235:genetics* / Q000628:therapy; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D002869:Chromosome Aberrations; D017707:Erythrocyte Transfusion; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008844:Micrognathism / Q000235:genetics; D011282:Pregnenediones / Q000627:therapeutic use; D011859:Radiography; D012010:Red-Cell Aplasia, Pure / Q000000981:diagnostic imaging / Q000235:genetics* / Q000628:therapy; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities* / Q000000981:diagnostic imaging
D000893:Anti-Inflammatory Agents; D011282:Pregnenediones; C021988:deflazacort