\"Baby rattle\" pelvis dysplasia

What is \"Baby rattle\" pelvis dysplasia?

\"Baby rattle\" pelvis dysplasia is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Cormier-Daire et al., (2001) reported a female infant with a form of bone dysplasia resembling achondrogenesis, but with distinctive radiological features. Ossification of all the vertebral bodies was absent and there was complete absence of ossified pedicles in sacral regions. The chest was bell-shaped with fractured, fused, and wavy ribs, elongated clavicles and irregular scapulae. The metaphyses of the long bones were widened and the diaphyses were short with a thick cortex. There was a bifid distal humerus bilaterally and there was a similar, but less obvious appearance to the distal end of the femurs. There was significant brachydactyly with unusually shaped tarsal bones. In the pelvis the ilia were tall and broad and the acetabular roofs hypoplastic. The sacrosciatic notches were absent and the appearance of each hemi-pelvis resembled a \"baby rattle\". The chondro-osseous morphology was very abnormal (see the original paper for a description of this).
The infant reported by Sharma, (2003) may be an example of this condition.

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* This information is courtesy of the L M D.

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What gene changes cause \"Baby rattle\" pelvis dysplasia?

The syndrome is inherited in the following inheritance pattern/s:

Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

The syndrome can be caused by mutations in the following gene/s location/s:

What are the main symptoms of \"Baby rattle\" pelvis dysplasia?

The typical symptoms of the syndrome are:

How does someone get tested for \"Baby rattle\" pelvis dysplasia?

The initial testing for \"Baby rattle\" pelvis dysplasia can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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