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Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips
  1. G R Mortier1,
  2. P P G Kramer2,
  3. A Giedion3,
  4. F A Beemer4
  1. 1Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium
  2. 2Department of Radiology, University Medical Centre, Utrecht, The Netherlands
  3. 3Department of Radiology, Children’s Hospital, Zürich, Switzerland
  4. 4Department of Medical Genetics, Division of Biomedical Genetics, University Medical Centre, Utrecht, The Netherlands
  1. Correspondence to:
 Dr G Mortier, Department of Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium;
 geert.mortier{at}rug.ac.be

https://doi.org/10.1136/jmg.40.3.201

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    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 inheritance. Because all cases show cone shaped epiphyses in the hands and a radiographically characteristic involvement of the proximal femoral epiphyses, we propose naming this condition acrocapitofemoral dysplasia.

    CASE REPORTS

    Patient 1

    Patient 1 was referred at the age of 9.5 years with the tentative diagnosis of hypochondroplasia. She was born at 34 weeks’ gestation with a birth weight of 2470 g (50th centile) and length of 47 cm (50th-90th centile). The pregnancy was uncomplicated and the delivery uneventful. Around the age of 7 years, short stature was noted. She had normal psychomotor development but experienced emotional problems related to her short stature. The parents are healthy but consanguineous (fig 1A). The father measures 166 cm and the mother 163 cm. A younger sister is also healthy and has a normal height. Physical examination at the age of 9 years 6 months showed short stature with height …

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