Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy.

Abstract

This report describes two unrelated boys presenting with short stature, femoral metaphyseal abnormalities, platyspondyly, and retinitis pigmentosa. Patients share similar findings with cases described by Ehara et al. [Ehara et al. (1997); Eur J Pediatr 156:627-630] described as axial spondylometaphyseal dysplasia. The presence of consanguinity in one of our patients further supports an autosomal recessive mode of inheritance of what, we believe, constitutes a separate and distinct entity.

• Authors: Bertrand Isidor, Sabine Baron, Philippe Khau van Kien, Anne-Marie Bertrand, Albert David, Martine Le Merrer
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 152A Issue 6 Pg. 1550-4 (Jun 2010) ISSN: 1552-4833 [Electronic] United States
• PMID: 20503334 (Publication Type: Case Reports, Journal Article)
• Copyright: (c) 2010 Wiley-Liss, Inc.

Topics

• Adolescent
• Child
• Femur (abnormalities)
• Growth Disorders (diagnosis, genetics)
• Humans
• Male
• Osteochondrodysplasias (diagnosis, diagnostic imaging, genetics)
• Radiography
• Retinal Degeneration (diagnosis, genetics)
• Retinitis Pigmentosa (diagnosis, genetics)
• Syndrome