title: Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports.
abstract: BACKGROUND
  Hutchinson-Gilford progeria syndrome is a rare pediatric genetic syndrome with an incidence of one per eight million live births. The disorder is characterized by premature aging, generally leading to death due to myocardial infarction or stroke at approximately 13.4 years of age. The genetic diagnosis and special clinical manifestation in two Han Chinese siblings observed at our clinic for genetic counseling are described in this report. We screened the LMNA gene in these two siblings as well as in their unaffected parents. A homozygous mutation R527C was identified in the affected siblings, and both parents were heterozygous for this variant.
  
  
  METHODS
  In case 1, the elder 10-year-old female sibling showed the classic physical and radiological changes of Hutchinson-Gilford progeria syndrome in addition to a considerable overlap with the phenotype of mandibuloacral dysplasia.In case 2, the younger male sibling had begun to show some early physical changes at age six months.
  
  
  CONCLUSIONS
  The phenotypic findings in the patients we describe here widen the clinical spectrum of Hutchinson-Gilford progeria syndrome symptoms, providing further recognition of the phenotypic range of LMNA-associated diseases.
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China. xiakun@sklmg.edu.cn.
authors.forename: Zhimin
authors.initials: Z
authors.lastname: Xiong
authors.forename: Yanmei
authors.initials: Y
authors.lastname: Lu
authors.forename: Jinjie
authors.initials: J
authors.lastname: Xue
authors.forename: Sanchuan
authors.initials: S
authors.lastname: Luo
authors.forename: Xiaojuan
authors.initials: X
authors.lastname: Xu
authors.forename: Lusi
authors.initials: L
authors.lastname: Zhang
authors.forename: Hao
authors.initials: H
authors.lastname: Peng
authors.forename: Wei
authors.initials: W
authors.lastname: Li
authors.forename: Dengming
authors.initials: D
authors.lastname: Chen
authors.forename: Zhengmao
authors.initials: Z
authors.lastname: Hu
authors.forename: Kun
authors.initials: K
authors.lastname: Xia