Article Text

Rare disease
Congenital skeletal dysplasia
  1. Vaidyanathan Gowri1,
  2. Rajeev Jain2
  1. 1
    Sultan Qaboos University, Obstetrics and Gynecology, PO Box 35, College of Medicine, Muscat, 123, Oman
  2. 2
    Sultan Qaboos University, PO Box 35, Muscat, 123, Oman
  1. Vaidyanathan Gowri, gowrie61{at}

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A babygram of a 32-week stillborn fetus (fig 1) showed very poor mineralisation of the axial and appendicular skeleton. Antenatal ultrasound showed all the long bones were very short, apparently normal skull bones and polyhydramnios and no other system abnormalities. The antenatal diagnosis was thanatophoric dwarfism. There was no significant obstetric history …

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  • Competing interests: None.

  • Patient consent: Patient/guardian consent was obtained for publication.