LETTER TO JMG

The phenotype of survivors of campomelic dysplasia

S Mansour¹, A C Offiah², S McDowall³, P Sim³, J Tolmie⁴, C Hall²

¹ South-West Thames Regional Genetic Service, St George’s Hospital Medical School, Cranmer Terrace, London SW17 0RE, UK
² Department of Radiology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK
³ Howard Florey Institute, University of Melbourne, Royal Parade, Parkville, Victoria 3010, Australia
⁴ West of Scotland Regional Genetics Service, Institute of Medical Genetics, Yorkhill NHS Trust, Glasgow G3 8SJ, UK

Correspondence to:
Correspondence to:
Dr S Mansour, South-West Thames Regional Genetic Service, St George’s Hospital Medical School, Cranmer Terrace, Tooting, London SW17 0RE, UK;
smansour@sghms.ac.uk

Keywords: campomelic dysplasia; phenotype of survivors

The first 150 words of the full text of this article appear below.

Five patients with campomelic dysplasia who have survived (age range 7 to 20 years) are described, all of whom have molecular or cytogenetic evidence of campomelic dysplasia. The phenotype and radiological features of these cases are consistent. Complications in this group include recurrent apnoea and upper respiratory infections, progressive kyphoscoliosis, mild to moderate learning difficulties, short stature, and dislocation of the hips. All five had very similar facial features. The radiological features include hypoplastic scapulae, defective ischiopubic ossification, absent or hypoplastic patellae, and spinal dysraphism.

Campomelic dysplasia (CMD) is a rare skeletal dysplasia resulting from mutations in SOX9. It is usually lethal in the first year of life. Three-quarters of the cases with a male karyotype have complete or partial sex reversal.¹ The skeletal changes in the neonatal period are well recognised and include hypoplastic scapulae, bowing of the long bones, vertical narrow iliac bones, and absence of ossification of . . . [Full text of this article]

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

• Pop, R, Conz, C, Lindenberg, K S, Blesson, S, Schmalenberger, B, Briault, S, Pfeifer, D, Scherer, G (2004). Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal. J. Med. Genet. 41: e47-e47 [Full Text]  
• Offiah, A C, Mansour, S, McDowall, S, Tolmie, J, Sim, P, Hall, C M (2002). Surviving campomelic dysplasia has the radiological features of the previously reported ischio-pubic-patella syndrome. J. Med. Genet. 39: e50-50 [Full Text]