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Skeletal dysplasias
  1. C G D Brooka,
  2. B B A de Vriesb
  1. aLondon Centre for Paediatric Endocrinology, The Middlesex Hospital, Mortimer Street, London W1N 8AA, UK, bDepartment of Clinical Genetics, University Hospital Dijkzigt, Rotterdam, Netherlands
  1. Professor Brook. email: c.brook{at}ucl.ac.uk

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Making a diagnosis of a skeletal dysplasia on clinical grounds may be extremely easy but it may be so difficult that it is easy to miss. Table 1 shows the features that should alert the clinician to request a radiographic skeletal survey—the sine qua non of diagnosis. Failure to diagnose mild cases of the more common skeletal dysplasias leads clinicians to reassure patients incorrectly about their future growth prospects because usual prediction methods are not valid. Figure1 shows the growth chart of such a patient.

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Table 1

Indications for performing a radiographic skeletal survey

Figure 1

Growth chart of patient with missed diagnosis of hypochondroplasia.

Case report

A male patient was seen in hospital for advice about short stature at the age of 5.7 years. An adopted child, previous measurements suggested that he had grown at a normal rate since the end of the first year of life and his short stature with delayed bone age was attributed to a failure of the infantile curve of growth. Follow up showed evidence of a mid-childhood growth spurt and the start of pubertal growth around 11 years. He was discharged just before his 13th birthday as all appeared to be well but he was referred again at 14.5 years because he had not grown as predicted. Measurement revealed an inadequate puberty growth spurt in the legs, and skeletal radiography showed features characteristic of hypochondroplasia.

Clinical suspicion

Some skeletal dysplasias are so severe that they are detected by ultrasound before birth. Most severe skeletal dysplasias, especially achondroplasia and conditions resembling achondroplasia, are easily seen in neonates. There may well be disproportion between crown–rump and overall lengths, and associated features, such as a large head and characteristic facies, will reinforce the clinical impression. The interpretation of skeletal radiographs at this age is not easy and, because the categorisation of skeletal dysplasias …

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