Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p139 | (1) | ICCBH2019

Growth hormone therapy in a child with severe short stature due to Miller-McKusick-Malvaux (3M) syndrome-2

Seneviratne Sumudu , Silva Deepthi de , Cottrell Emily , Kuruppu Piumi , Silva KSH de , Storr Helen

Background: 3M syndrome is a primordial growth disorder caused by mutations in CUL7, OBSL1 or CCDC8. Affected individuals have severe short stature for which growth hormone (GH) therapy may have a role1. We present a 10-year-old girl from Sri Lanka with 3M syndrome-2 due to a mutation in OBSL1 gene, with good short-term response to growth hormone therapy.Presenting Problem: The only child of second-degree consanguineous parents, both themselve...