ISSN - 0973-0958

Pediatric Oncall Journal

Congenital skeletal defect

Amit R Jain.
Shree Nursing Home, Gondia, Maharashtra, India.

Dr Amit R Jain, Shree Nursing Home, Gondia, Maharashtra, India.
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}.

Figure 1
Figure 1

  Congenital skeletal defect
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
Compliance with ethical standards
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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