Abstract
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.
Original language | English |
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Pages (from-to) | 160-162 |
Number of pages | 3 |
Journal | Congenital anomalies |
Volume | 53 |
Issue number | 4 |
DOIs | |
Publication status | Published - 2013 Dec |
Externally published | Yes |
Keywords
- Chondrodysplasia punctata brachytelephalangic type
- Fetal magnetic resonance imaging
- Prenatal diagnosis
- Spinal cord compression
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Embryology
- Developmental Biology