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首页> 外文期刊>Journal of Clinical and Diagnostic Research >Thanatophoric Dysplasia:A Case Report
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Thanatophoric Dysplasia:A Case Report

机译：眼托不典型增生：一例报告

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Thanatophoric Dysplasia (TD) is a congenital, sporadic and the most lethal skeletal dysplasia caused by new mutation in the FGFR3 gene. At birth, it is characterized by shortening of the limbs (micromelia), small conical thorax, platyspondyly (flat vertebral bodies) and macrocephaly. TD is divided into two clinically defined subtypes: type I and II with some clinical overlap between the two subtypes. They can be differentiated by the skull shape and femur morphology. Ultrasound examination in the second trimester is often straight forward in diagnosing the congenital anomaly. We report a case of pre term fresh stillborn baby with dysmorphic facies, macrocephaly, micromelia with short stubby fingers and deep skin creases, narrow thorax and protuberant abdomen which delivered at our hospital. The ultrasound examination showed shortening of long bones with femur shaped like telephone receiver. Dysmorphic facial features and skeletal abnormalities in the baby lead us to make the diagnosis of TD type I. Because of the rarity of this condition we report this case of thanatophoric dysplasia with a short review of literature.
机译：透颅不典型增生（TD）是由FGFR3基因的新突变引起的先天性，散发性和最致命的骨骼发育不良。出生时，其特征是肢体缩短（小mel），圆锥形小胸部，胸椎（椎体扁平）和大头畸形。 TD分为两种临床定义的亚型：I型和II型，两种亚型之间有些临床重叠。它们可以通过颅骨形状和股骨形态来区分。妊娠中期超声检查通常可以直接诊断出先天性异常。我们报告了一例早产的死产婴儿，其畸形相，大头畸形，手指短粗短，皮肤皱折深，胸廓狭窄和腹部隆起的小黑ia，已在我院分娩。超声波检查显示股骨状的长骨缩短，像电话听筒一样。婴儿的面部畸形和骨骼异常导致我们诊断为I型TD。由于这种情况的罕见性，我们在文献简短回顾的情况下报告了这种斜方肌发育不良的病例。

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