© 2003 BMJ Publishing Group
LETTER TO JMG
Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips
1 Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium
2 Department of Radiology, University Medical Centre, Utrecht, The Netherlands
3 Department of Radiology, Children’s Hospital, Zürich, Switzerland
4 Department of Medical Genetics, Division of Biomedical Genetics, University Medical Centre, Utrecht, The Netherlands
Correspondence to:
Correspondence to:
Dr G Mortier, Department of Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium;
geert.mortier@rug.ac.be
Keywords: acrocapitofemoral dysplasia; cone shaped epiphyses; short limb dwarfism; premature epimetaphyseal fusion
| The first 150 words of the full text of this article appear below. |
Genetic disorders of the skeleton or skeletal dysplasias are a clinically diverse and genetically heterogeneous group of connective tissue disorders affecting skeletal morphogenesis and development.1–4 More than 200 different entities have been described.5 Despite the growing availability of molecular testing for several of these disorders, the diagnosis of a skeletal dysplasia still relies primarily on a thorough clinical and radiographic study of the patient.6 Some particular radiographic signs can be very helpful in establishing the diagnosis. One such example is the presence of cone shaped epiphyses.7 In most instances, cone shaped epiphyses represent the initial stage of premature epimetaphyseal fusion resulting in growth arrest and shortening of the bone involved. Analysis of the site and shape of cone shaped epiphyses, in particular of the phalanges, can be helpful in the diagnosis of skeletal dysplasias.8–10
Based on the observation of four patients, we delineate a new skeletal dysplasia with autosomal recessive
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