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Abstract

October‐December 2017 | Vol. 10 | Issue 4 | Page No 4-6
Dyggve-Melchior-Clausen Syndrome: A Case Report
Vasikarla Madhavi
Fernandez Hospital, Hyderabad, Telangana, India
Address for Correspondence Email: drmadhavi@fernandezhospital.com
 
Abstract
We report a case of short stature with delayed mile stones. The child was evaluated and the diagnosis of Dyggve-Melchoir-Clausen Syndrome was considered . Confirmation of the diagnosis was done by next generation sequencing-based molecular genetic testing, as the mother had an ongoing pregnancy and prenatal diagnosis requires confirmation in the index case. This case report highlights the utility of next generation sequencing in definitive diagnosis of the proband and for offering prenatal diagnosis in the next pregnancy.
 
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