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首页> 外文期刊>American journal of medical genetics, Part A >Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings
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Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings

机译：末端骨质发育不良，具有颜料缺陷（Todpd）在土耳其女孩有新的皮肤调查结果

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摘要

Terminal osseous dysplasia with pigmentary defects (TODPD; MIM #300244) is an extremely rare, X-linked dominant, in utero male-lethal disease, characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibromatosis of childhood. Delayed/abnormal ossification of bones of the hands and feet, joint contractures, and dysmorphic facial features may accompany. A single recurrent mutation (c.5217 GA) of the FLNA gene which causes cryptic splicing was identified as the cause of the disease. We here present the first TODPD case from Turkey with full-blown phenotype who exhibit unique additional findings, hypopigmented patch on the lower extremity following Blaschko's lines and smooth muscle hamartoma of the scalp in review of all the previously reported TODPD cases.
机译：末端骨质发育不良，具有颜料缺陷（ToDPD; MIM＃300244）是一种极其罕见的X型致力的显性，在子宫男性致死病中，其特征在于肢体的骨骼发育不良，皮肤色素缺陷，以及童年的反复性数字纤维瘤病 。 手和脚的骨骼延迟/异常骨化，关节挛缩和疑似面部特征可以伴随。 将引起隐秘剪接的FLNA基因的单一反复间突变（C.5217g> a）被鉴定为疾病的原因。 我们在这里将第一个来自火鸡的Todpd案例以暴发的表型表现出独特的额外结果，在Blaschko的线条和头皮的平滑肌人物的下肢下的下肢下降，在审查所有先前报告的ToDPD病例中，对下肢进行了较低的斑块。

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