ESPE Abstracts

Introduction: Acromesomelic Dysplasia of Maroteaux (AMDM) is a cause of severe short stature (final height below120cm) with shortening of the middle and distal segments of the limbs, caused by homozygous or heterozygous mutations in the NPR2 gene which encodes natriuretic peptide receptor B on chromosome 9p13Case report: The proband was 4y6mo old, second born to 3rd degree consanguineous parents and presented ...