Clinical utility of an array comparative genomic hybridization analysis
Clinical utility of an array comparative genomic hybridization analysis
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阵列比较基因组杂交分析的临床应用
DOI：
10.1111/cga.12065
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发表时间：
2014
期刊：
影响因子：
--
通讯作者：
K.
中科院分区：
文献类型：
--
作者：
Yagihashi;T.;Torii;C.;Takahashi;R.;Omori;M.;Kosaki;R.,...Kosaki;K.
Majewski 综合征或 II 型短肋多指综合征 (SRPS) 是一种致命性骨骼发育不良，其特征是严重的 IUGR（宫内生长受限）和面部畸形、多指畸形、出生时头部大小相对比例不均，随后进展为小头畸形。报告一例妊娠中期超声诊断为 SRPS II 型的病例，并回顾了既往观察病例的医疗记录。尸检和X光片证实了临床诊断。股骨骨痂软骨板的组织学检查显示扩大且不规则的肥厚区。此外，还证实了双肾特征性皮质髓质囊肿和门静脉纤维化；研究结果与这种罕见骨骼疾病的广泛表型谱一致。
The Majewski syndrome or short rib‐polydactyly syndrome (SRPS) type II is a lethal skeletal dysplasia characterized by severe IUGR (intrauterine growth restriction) and dysmorphic face, polydactyly, relatively proportionate head size at birth with later progression to microcephaly. A case of second trimester ultrasound diagnosis of SRPS type II is reported with review of the medical record of previous observed cases. Postmortem examination and radiogram confirmed the clinical diagnosis. Histological examination of the femoral epypheseal chondral plate showed an expanded and irregular hypertrophic zone. Moreover, characteristic cortico‐medullary cysts of both kidneys and portal fibrosis were also demonstrated; findings consistent with the broad phenotypic spectrum of this rare skeletal disease.