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Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases
  1. V Cormier-Daire1,
  2. A L Delezoide2,
  3. N Philip3,
  4. P Marcorelles4,
  5. K Casas,
  6. Y Hillion,
  7. L Faivre1,
  8. D L Rimoin,
  9. A Munnich1,
  10. P Maroteaux1,
  11. M Le Merrer1
  1. 1Department of Medical Genetics and INSERM U393, Hôpital Necker, Paris, France
  2. 2Service de Biologie du Développement, Hôpital Robert Debré, Paris, France
  3. 3Département de Génétique Médicale, Hôpital de La Timone, Marseille, France
  4. 4Service d’Anatomie Pathologique, Hôpital Morvan, Brest, France
  1. Correspondence to:
 Dr V Cormier-Daire, Department of Medical Genetics, Hopital Necker Enfants Malades, 149 rue de Sévres, 75015 Paris, France;
 cormier{at}necker.fr

https://doi.org/10.1136/jmg.40.3.195

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    Opsismodysplasia (opsismos in Greek = late) is a rare chondrodysplasia, first described in 1977 by Zonana et al1 as a unique chondrodysplasia and designated “opsismodysplasia” only in 1984.2 The disorder is characterised clinically by micromelia with extremely short hands and feet and respiratory distress responsible for death in the first few years of life.2 The main radiological features include severe platyspondyly, major delay in skeletal ossification, and metaphyseal cupping. To date, 13 cases have been reported and recurrence in sibs and/or consanguinity have suggested an autosomal recessive mode of inheritance.1–6 Here, we describe the clinical, radiological and chondro-osseous findings of 12 previously unreported cases in nine families. We show that opsismodysplasia is not a consistently lethal condition and we identify the severity of the delayed bone ossification as an important feature, distinct from other forms of spondylo(epi)metaphyseal dysplasias.

    PATIENTS AND METHODS

    Seven male and five female cases originating from nine families of French (4/9), German, (1/9), and Algerian origin (4/9) were included in the study. All affected cases presented with the following inclusion criteria: (1) major delay in epiphyseal ossification, (2) platyspondyly, (3) metaphyseal cupping, and (4) very short metacarpals and phalanges. Half of the cases were prenatally diagnosed during ultrasound follow up of the pregnancies and half of them were diagnosed postnatally. Pregnancies were terminated between 15 and 29 weeks’ of gestation. For chondro-osseous studies, the samples were embedded in paraffin and HES routinely stained after fixation in 4% formaldehyde and decalcification with EDTA.

    Key points

    • We present the clinical, radiographic, and histological findings of 11 new cases of opsismodysplasia belonging to eight families.

    • All cases presented with dysmorphic features, large anterior fontanelle, short hands and feet, and short stature. Radiographic features included very delayed bone maturation, marked shortness of the hand and foot bones with metaphyseal …

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