Acromesomelic dysplasia (Marotaeux type) associated with craniovertebral junction anomaly: A report of a rare case and review of literature

Acromesomelic dysplasia (Marotaeux type) associated with craniovertebral junction anomaly: A report of a rare case and review of literature

Acromesomelic dysplasia Maroteaux type (AMDM) is a rare autosomal recessive osteochondrodysplasia. The responsible gene, AMDM gene, in human beings, has been mapped on 9p13-q12 chromosome by homozygous mapping and pathogenic mutation was later identified in natriuretic receptor B (NPR-B) which has b...

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Bibliographic Details
Main Authors: Jayesh C. Sardhara, Kumar Ashish, Anant Mehotra, Arun K. Srivastava, Kuntal K. Das
Format: Article
Language:English
Published: Thieme Medical Publishers, Inc. 2014-05-01
Series:Indian Journal of Neurosurgery
Subjects:
acromesomyelia
craniovertebral junction
marotaeux variant
surgery
Online Access:http://www.thieme-connect.de/DOI/DOI?10.4103/2277-9167.138919

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