Objective: To investigate the clinical features and gene mutation in children with McCune-Albright syndrome, and review the related literature. Methods: The clinical data of two children with McCune-Albright syndrome admitted to our hospital were summarized, and their fresh tissues and peripheral blood were collected for gene detection. Results: The main symptoms of the children were peripheral precocious puberty (breast development, menarche, ovarian cysts), café-au-lait spots on the skin (skin asymmetry brown pigmentation, irregular edge), and poor bone fibrous structure (bone changes of distal radius and /or tibiofibula). The results of gene molecular genetic analysis showed that there were GNAS gene mutations [c.602G>A heterozygous mutation(p.R201H)、c.46C>T(p.R16C)]. Conclusion: McCune-Albright syndrome is rare and easy to be missed and misdiagnosed. Gene detection is helpful for the clinical diagnosis of children with MAS.
WANG Jingna
,
WANG Jieying
,
LI Rongmin
,
CHANG Jie
,
LEI Shuqin
,
SANG Yanmei
. McCune-Albright syndrome: two cases report and review of the literature[J]. Journal of Baotou Medical College, 2022
, 38(10)
: 79
-85
.
DOI: 10.16833/j.cnki.jbmc.2022.10.016
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