Rhizomelic chondrodysplasia punctata

Case contributed by Rick van Rijn

Presentation

Antenatal diagnosis of shortening of femora and humeri and a tetralogy of Fallot. At a gestational age of 35 5/7 weeks a female was born. APGAR scores: 1 over 1 after respectively 1 and 5 minutes. The girl died 2 hours after birth.

Patient Data

Age: 2 days
Gender: Female
Modality: 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.

Modality: X-ray

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

Modality: X-ray

The lateral spine shows 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.

PlayAdd to Share

Case Information

rID: 40230
Case created: 13th Oct 2015
Last edited: 13th Mar 2016
Inclusion in quiz mode: Included

Updating… Please wait.
Loadinganimation

Alert accept

Error Unable to process the form. Check for errors and try again.

Alert accept Thank you for updating your details.