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.
MeSH terms
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Abnormalities, Multiple / diagnostic imaging
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Abnormalities, Multiple / genetics*
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Anemia, Diamond-Blackfan / diagnostic imaging
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Anemia, Diamond-Blackfan / genetics*
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Anemia, Diamond-Blackfan / therapy
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Anti-Inflammatory Agents / therapeutic use
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Chromosome Aberrations*
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Erythrocyte Transfusion
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Genes, Recessive*
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Hand Deformities, Congenital / diagnostic imaging
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Hand Deformities, Congenital / genetics*
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Humans
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Infant
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Male
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Micrognathism / genetics
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Pregnenediones / therapeutic use
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Radiography
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Red-Cell Aplasia, Pure / diagnostic imaging
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Red-Cell Aplasia, Pure / genetics*
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Red-Cell Aplasia, Pure / therapy
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Syndrome
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Thumb / abnormalities*
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Thumb / diagnostic imaging
Substances
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Anti-Inflammatory Agents
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Pregnenediones
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deflazacort