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Congenital skeletal defect
Amit R Jain.
Shree Nursing Home, Gondia, Maharashtra, India.

Cite this article  Copy Citation
Jain A R. Congenital skeletal defect. Pediatr Oncall J. 2011;8: 54.

Address for Correspondence
Dr Amit R Jain, Shree Nursing Home, Gondia, Maharashtra, India.

Email
aruljain19@yahoo.co.in

A term male child appropriate for gestational age with birth weight of 2.6kg born to a primigravida unregistered 22 years old mother by normal vaginal delivery was found to have the short limbs and shortened toe-like fingers and rudimentary grape like toes. {Figure 1}.

What is the diagnosis?

 
Grebe`s syndrome. It is a rare autosomal recessive genetic disorder caused by mutation in CDMP1 gene. Children with Grebe syndrome have considerable physical limitations and normal intelligence.

E-published: April 2011 Vol 8 Issue 4 Art # 23
 
Funding: None
 
Conflict of Interest: None
 
Cite this article as :
Jain A R. Congenital skeletal defect. Pediatr Oncall J. 2011;8: 54.
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