Hajdu Cheney syndrome; A novel NOTCH2 mutation in a Syrian child, and treatment with zolidronic acid: A case report and a literature review of treatments.

ABSTRACT:

Introduction

Hajdu Cheney Syndrome (HCS) is a rare genetic disorder characterized by skeletal deformities such as acroosteolysis, osteoporosis, unique craniofacial features, and other systemic abnormalities. This syndrome is caused by NOTCH2 gene mutations, which cause an increase of osteoclast and osteoblast activity that leads to the increased bone resorption. Because of how rare the syndrome is and the vague onset of the symptoms, it can be challenging to make an early diagnosis.

Case presentation

We report a case of a female child with HCS who has a new NOTCH2 mutation sequence; (NM_024408.3:c.6463G > T) protein change (Glu2155*), and to our knowledge this is the first reported and diagnosed case in Syria. She presents with short stature, unique craniofacial features, sc

SUBMITTER: Ahmad A 

PROVIDER: S-EPMC8606845 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature