Ochiai Daigo, Takamura Kyoko, Nishimura Gen, Ikeda Toshiyuki, Yakubo Kazumi, Fukuiya Tatsuro
Department of Obstetrics and Gynecology, Saitama City Hospital, Saitama-shi, Saitama, Japan.
Congenit Anom (Kyoto). 2013 Dec;53(4):160-2. doi: 10.1111/cga.12003.
Chondrodysplasia punctata brachytelephalangic type is a common subset of a heterogeneous group of chondrodysplasia punctata. Most affected children generally do not have significant physical disabilities; however, a small number of patients are at risk of cervical canal stenosis with cervical cord compression leading to serious morbidity and early mortality. Very little is known about the in utero manifestation of severe complications. We report an affected child in whom the Binder phenotype was found on antenatal ultrasound and cervical spinal cord compression on fetal magnetic resonance imaging. Prenatal diagnosis of chondrodysplasia punctata brachytelephalangic type and its complications are beneficial for timely, prompt medical intervention.
短指型点状软骨发育不良是一组异质性点状软骨发育不良中的常见亚型。大多数受影响的儿童通常没有明显的身体残疾；然而，少数患者有颈椎管狭窄伴颈髓受压的风险，可导致严重的发病和早期死亡。对于严重并发症的宫内表现知之甚少。我们报告了一名受影响的儿童，其在产前超声检查中发现了Binder表型，在胎儿磁共振成像中发现了颈髓受压。产前诊断短指型点状软骨发育不良及其并发症有利于及时、迅速的医学干预。
