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The phenotype of survivors of campomelic dysplasia
  1. S Mansour1,
  2. A C Offiah2,
  3. S McDowall3,
  4. P Sim3,
  5. J Tolmie4,
  6. C Hall2
  1. 1South-West Thames Regional Genetic Service, St George’s Hospital Medical School, Cranmer Terrace, London SW17 0RE, UK
  2. 2Department of Radiology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK
  3. 3Howard Florey Institute, University of Melbourne, Royal Parade, Parkville, Victoria 3010, Australia
  4. 4West of Scotland Regional Genetics Service, Institute of Medical Genetics, Yorkhill NHS Trust, Glasgow G3 8SJ, UK
  1. 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{at}sghms.ac.uk

https://doi.org/10.1136/jmg.39.8.597

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    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 the thoracic pedicles.

    The case histories of five children who share a number of clinical and radiological features are presented.

    CASE REPORTS

    Case 1

    A mother was diagnosed at the age of 18 years after giving birth to a daughter with the classical features of campomelic dysplasia.2

    The daughter had shortening of all four limbs, tibial bowing, with skin dimpling over the apex of each tibia. There was bilateral talipes equinovarus and relative macrocephaly (head circumference on the 50th centile, length <3rd centile). She had micrognathia and a depressed nasal bridge. The karyotype was normal female. She had the classical radiological features of campomelic dysplasia with hypoplastic scapulae and absent pedicles in the mid-thoracic region, 11 pairs of ribs, shortening of the long bones with bowing, narrow iliac bones with dislocation of the hips, short first metacarpals, and short phalanges in the hands and feet.2 She died of respiratory problems in …

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