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Rhizomelic chondrodysplasia punctata

Case contributed by Rick van Rijn
Diagnosis certain

Presentation

Antenatal diagnosis of short femora/humeri and tetralogy of Fallot. Delivered at almost 36 weeks gestation. Baby succumbed 2 hours after birth.

Patient Data

Age: 1 day
Gender: Female

Chest

x-ray

There is significant shortening of the humerus (rhizomelic shortening) with mild metaphyseal flaring of the distal humerus. Discrete punctate cartilaginous calcifications are present.

Left lower limb

x-ray

There is significant shortening of the femur (rhizomelic shortening). Discrete punctate cartilaginous calcifications are present.

Spine

x-ray

There is coronal clefting of the vertebral bodies.

Case Discussion

Rhizomelic chondrodysplasia punctata (RCDP, OMIM #215100) is a rare peroxisomal disorder that influences the development of many organs. Some of the key features are severe intellectual disability, spasticity, cataracts, facial dysmorphology, skeletal abnormalities and respiratory problems.

On the skeletal survey, the hallmark findings are:

  • rhizomelic shortening of the extremities
  • metaphyseal splaying
  • punctate cartilaginous calcifications, which mostly resolve after the age of 1 year
  • coronal clefting of the vertebral column

There are three subtypes of RCDP with a similar clinical presentation, the distinction is based on the underlying genetic cause. In this specific case the diagnosis RCDP type 1 was genetically confirmed. Both parents are carrier of the genetic defect.

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