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Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review
Author(s) -
Ochiai Daigo,
Takamura Kyoko,
Nishimura Gen,
Ikeda Toshiyuki,
Yakubo Kazumi,
Fukuiya Tatsuro
Publication year - 2013
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12003
Subject(s) - medicine , chondrodysplasia punctata , prenatal diagnosis , in utero , spinal cord compression , magnetic resonance imaging , spinal cord , fetus , pediatrics , surgery , pregnancy , anatomy , radiology , psychiatry , biology , genetics
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.