NOVEL MUTATIONS IN AN INFANT WITH MICROCEPHALIC PRIMORDIAL DWARFISM, DILATED CARDIOMYOPATHY, SUBCLINICAL HYPOTHYROIDISM, AND EARLY DEATH: EXPANDING THE PHENOTYPE OF MUTATIONS.
Journal:
AACE clinical case reports
Published Date:
Aug 28, 2019
Abstract
OBJECTIVE: Microcephalic primordial dwarfism (MPD) is a group of clinically and genetically heterogeneous disorders which result in severe prenatal and postnatal growth failure. X-ray repair cross-complementing protein 4 () is a causative gene for an autosomal recessive form of MPD. The objective of this report is to describe novel mutations in a female infant with MPD, dilated cardiomyopathy, and subclinical hypothyroidism.
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