Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene
Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene
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DOI：
10.1111/cga.12066
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发表时间：
2014-11-01
影响因子：
1.3
通讯作者：
Enomoto, Takayuki
中科院分区：
文献类型：
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作者：
Serikawa, Takehiro;Nishiyama, Kenichi;Enomoto, Takayuki
马氏综合征或短肋骨-多指综合征（SRPS）II型是一种致命的骨骼发育不良，其特征是严重的IUGR（宫内生长受限）和畸形的面部，多指畸形，出生时头部大小相对成比例，随后进展为小头畸形。本文报告一例孕中期超声诊断为SRPS II型的病例，并复习了以往观察病例的病历。尸检和X线片证实了临床诊断。组织学检查显示股骨骺软骨板肥大区扩大且不规则。此外，特征性的皮质-髓质囊肿，肾脏和门静脉纤维化也被证明;结果与这种罕见的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.