Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review.

ABSTRACT:

Background

Hajdu-Cheney syndrome (HCS) is a rare inherited skeletal disorder caused by pathogenic mutations in exon 34 of NOTCH2. Its highly variable phenotypes make early diagnosis challenging. In this paper, we report a case of early-onset HCS with severe phenotypic manifestations but delayed diagnosis.

Case presentation

The patient was born to non-consanguineous, healthy parents of Chinese origin. She presented facial anomalies, micrognathia and skull malformations at birth, and was found hearing impairment, congenital heart disease and developmental delay during her first year of life. Her first visit to our center was at 1 year of age due to cardiovascular repair surgery for patent ductus arteriosus (PDA) and ventricular septal defect (VSD). Skull X-ray showed wormian b

SUBMITTER: Zeng C 

PROVIDER: S-EPMC7060511 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature