Diastrophic Dysplasia, a Rare Cause of Congenital Dwarfism

Authors: Srikanth SR , Telema Nga and Weili Chang

DOI: 10.23880/pnboa-16000102

Volume 1, Issue 1

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 wasfirst 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. Inherited as an autosomal recessive disease, the clinical presentation varies with distinct limb and spine anomalies in newborn infants.

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

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