Cleidocranial dysplasia with growth hormone deficiency: a case report.

ABSTRACT:

Background

Cleidocranial dysplasia (CCD) is a rare skeletal disorder with autosomal dominant inheritance that is characterized by hypoplastic clavicles, delayed closure of the cranial sutures, dental abnormalities, and short stature, among other features. The responsible gene for CCD is RUNX2 located on the short arm of chromosome 6p21. In general, there are intrafamilial variations in height among CCD patients. Few studies have reported data on recombinant human growth hormone (rhGH) treatment for patients with CCD; thus, it remains to be elucidated whether rhGH treatment can improve short stature. Here, we report a case of a 6-year-old girl with CCD who has growth hormone deficiency (GHD) and a novel mutation of RUNX2.

Case presentation

At 5 years of age, this patient was

SUBMITTER: Takaki N 

PROVIDER: S-EPMC6966812 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature