X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
复制标题
X连锁无脑畸形，胼胝体缺失，生殖器不明确。
DOI：
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发表时间：
1999
期刊：
影响因子：
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通讯作者：
D. Viskochil
中科院分区：
文献类型：
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作者：
W. Dobyns;E. Berry;Nancy J. Havernick;K. Holden;D. Viskochil
无脑畸形已被描述为超过10种不同的畸形综合征。最近，我们发现来自4个不相关家族的5名儿童患有几乎相同的疾病，包括无脑回畸形伴后-前梯度，皮质厚度仅中度增加，胼胝体缺失，癫痫发作，下丘脑功能障碍，包括温度调节不足，基因型男性生殖器模糊。我们在其中一个家庭中观察到5名受影响的男性，这与X连锁遗传模式一致。然而，它在许多方面不同于与XLIS（DCX）基因突变相关的X连锁形式的孤立无脑序列。因此，我们认为这种疾病包括一种新的X连锁畸形综合征，我们将其称为X连锁无脑畸形伴生殖器模糊（XLA-G）。
Lissencephaly has been described in over 10 distinct malformation syndromes. Recently, we have recognized 5 children from four unrelated families with an almost identical disorder comprising lissencephaly with a posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset epilepsy, hypothalamic dysfunction including deficient temperature regulation, and ambiguous genitalia in genotypic males. Our observation of 5 affected males in one of these families is consistent with an X-linked pattern of inheritance. However, it differs in many regards from the X-linked form of isolated lissencephaly sequence that is associated with mutations of the XLIS (DCX) gene. Therefore, we propose that this disorder comprises a new X-linked malformation syndrome, which we refer to as X-linked lissencephaly with ambiguous genitalia (XLA-G).
影响因子：
3.5
作者：
Pilz, DT;Matsumoto, N;Ross, ME
通讯作者：
Ross, ME