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

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

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_?
Answer :
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