Spot Diagnosis

Congenital skeletal defect

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

Address for Correspondence: Dr Amit R Jain, Shree Nursing Home, Gondia, Maharashtra, India.
Email: aruljain19@yahoo.co.in

Question :

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

What is the diagnosis?

Discussion :

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

Correct Answers :

42%

Last Shown : Apr 2011

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