Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review

Daigo Ochiai, Kyoko Takamura, Gen Nishimura, Toshiyuki Ikeda, Kazumi Yakubo, Tatsuro Fukuiya

研究成果: Article査読

6 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)160-162
ページ数3
ジャーナルCongenital anomalies
53
4
DOI
出版ステータスPublished - 2013 12
外部発表はい

ASJC Scopus subject areas

  • Medicine(all)

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