Clinical manifestations and gene analysis of Hutchinson-Gilford progeria syndrome: A case report.

ABSTRACT:

Background

This case report describes a child with Hutchinson-Gilford progeria syndrome (HGPS, OMIM: 176670) caused by LMNA (OMIM: 150330) gene mutation, and we have previously analyzed the clinical manifestations and imaging characteristics of this case. After 1-year treatment and follow-up, we focus on analyzing the changes in the clinical manifestations and genetic diagnosis of the patient.

Case summary

In April 2020, a 2-year-old boy with HGPS was found to have an abnormal appearance, and growth and development lagged behind those of children of the same age. The child's weight did not increase normally, the veins of the head were clearly visible, and he had shallow skin color and sparse yellow hair. Peripheral blood DNA samples obtained from the patient and his p

SUBMITTER: Zhang SL 

PROVIDER: S-EPMC9198858 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature