三名被诊断为HEM/格林伯格骨骼发育不良胎儿的病理、影像学和分子学检查结果。
Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia.
作者信息
Konstantinidou Anastasia, Karadimas Charalampos, Waterham Hans R, Superti-Furga Andrea, Kaminopetros Petros, Grigoriadou Maria, Kokotas Haris, Agrogiannis George, Giannoulia-Karantana Aglaia, Patsouris Efstratios, Petersen Michael B
机构信息
Department of Pathology, National University of Athens, Greece.
出版信息
Prenat Diagn. 2008 Apr;28(4):309-12. doi: 10.1002/pd.1976.
BACKGROUND
Greenberg skeletal dysplasia is a very rare, autosomal recessive, in utero, lethal chondrodystrophy for which only eight index cases of diverse ethnic origin have been reported so far. The defect is associated with a defect in cholesterol biosynthesis and due to mutations in the gene encoding the lamin B receptor (LBR).
METHODS
A familial case of three fetuses of a consanguineous Greek couple is presented including prenatal, physical, radiographic, histopathologic, and molecular genetic findings.
RESULTS
The tentative diagnosis of Greenberg skeletal dysplasia based on pathological findings was confirmed by the identification of a homozygous, N547D amino acid substitution in the LBR gene in the third affected fetus.
CONCLUSION
The present case represents the ninth described case of Greenberg dysplasia and the second case of Greek origin. The characteristic 'moth-eaten' radiographic appearance is already seen at 13 weeks' gestational age.
背景
格林伯格骨骼发育不良是一种非常罕见的常染色体隐性宫内致死性软骨发育不良，迄今为止仅报道了8例不同种族来源的索引病例。该缺陷与胆固醇生物合成缺陷有关，是由编码核纤层蛋白B受体（LBR）的基因突变所致。
方法
本文报告了一对希腊近亲夫妇的三胞胎胎儿的家族性病例，包括产前、体格检查、影像学、组织病理学和分子遗传学检查结果。
结果
通过在第三个受影响胎儿的LBR基因中鉴定出纯合的N547D氨基酸替代，基于病理结果对格林伯格骨骼发育不良的初步诊断得到了证实。
结论
本病例是描述的第九例格林伯格发育不良病例，也是第二例希腊裔病例。特征性的“虫蚀状”影像学表现早在孕13周时就已出现。
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