Apert Syndrome with Fused Thalami
Apert Syndrome with Fused Thalami
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DOI：
10.3109/15513815.2012.659407
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发表时间：
2012-01-01
影响因子：
1.1
通讯作者：
Rugge, Massimo
中科院分区：
文献类型：
--
作者：
Ludwig, Kathrin;Salmaso, Roberto;Rugge, Massimo
Apert syndrome (Acrocephalosyndactyly type I; AS) is a rare butwell-known autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, bony/cutaneous syndactyly of fingers and toes as well as a variety of associated congenital anomalies involving the brain, heart, limbs and other organ systems. We report the case of a fetus with molecularly confirmed Apert syndrome and additional fusion of the thalamic nuclei. Various central nervous system anomalies, have been reported in patients with AS. However, as far as we know cases of fused thalami in Apert syndrome have never been reported so far.
