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Diastrophic Dysplasia, a Rare Cause of Congenital Dwarfism

Journal: Pediatrics & Neonatal Biology Open Access (PNBOA) (Vol.1, No. 1)

Publication Date:

Authors : ; ;

Page : 1-4

Keywords : Diastrophic Dysplasia; Pierre Robin Sequence; Congenital Dwarfism; Genetic Testing;

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Abstract

Diastrophic dysplasia (DTD) is a rare skeletal disorder in the spectrum of a specific gene mutation. The term “diastrophos” which means curved or bent in Greek was first reported by Lamy, et al in 1960 from their observation of 3 patients. Since then, we have progressed significantly to understand the disease presentation and inheritance pattern over time.

Last modified: 2018-11-17 15:02:15