A Report of an Indian Boy with a Delayed Diagnosis of Pseudochondroplasia
Published: July 1, 2013 | DOI: https://doi.org/10.7860/JCDR/2013/.3167
Ankur Singh,T Abiramalatha,Gaurav Pradhan,Dong- Kyu Jin,Seema Kapoor
1. Senior Research Associate, MAMC Associated Lok Nayak
Hospital, New Delhi, India.
2. Pediatrics, MAMC Associated Lok Nayak Hospital
New Delhi, India.
3. Department of Radiology, MAMC Associated Lok Nayak
Hospital, New Delhi, India.
4. Professor, Department of Pediatrics, Samsung Medical
Center Sungkyumkwan University, Seoul Korea.
5. Professor Pediatrics, MAMC Associated Lok Nayak
Hospital, New Delhi, India.
Correspondence
Dr Seema Kapoor,
M-439, Ground Floor, Guruharkishan Nagar,
Paschim Vihar, New Delhi, India.
Phone: 9968604313
E-mail: drseemakapoor@gmail.com
The mutations in the Cartilage Oligomeric Matrix Protein (COMP) gene are associated two common and allelic bony dysplasias: Psuedoachondroplasia (PSACH) and Multiple epiphyseal dysplasias-1 (MED-1). The characteristic radiological features of both has been well established in the literature, with areas of overlap between the two in certain forms of mild PSACH and severe MED. MED is also a genotypically and a phenotypically heterogeneous disease. Here, we emphasise the salient radiological features which aid in the diagnosis of PSACH and COMP MED; which may enable a targeted molecular analysis.
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