RESUMEN
A patient with global developmental delay and facial abnormality treated in Hunan Maternal and Child Health Care Hospital in September 2018 was diagnosed as a typical Say-Barber-Biesecker/Young-Simpson syndrome (SBBYSS)accompanied with comprehensive clinical manifestations and genetic testing was carried out.The patient carries a heterozygous synonymous mutation of KAT6B gene (NM_012330.3)c.3147G>A (p.P1049P), thus leading to the formation of a new cleavage site (receptor) and forming a new truncated protein.In Chinese, this is the second typical SBBYSS that has been identified and the first prenatal genetic diagnosis has been performed.This study has broadened the mutation spectrum of SBBYSS caused by the mutation of KAT6B gene in Chinese population.
RESUMEN
Young-Simpson Syndrome (YSS) is a rare malformation syndrome characterized by facial dysmorphism, congenital heart abnormalities, congenital hypothyroidism and severe growth retardation. A 5-month-old girl was scheduled to undergo patch closure of atrial septal defect. She had been diagnosed with YSS preoperatively. We report out clinical experience of a case of YSS patient with brief review of related literatures and relevant anesthetic problems.
Asunto(s)
Humanos , Lactante , Blefarofimosis , Hipotiroidismo Congénito , Facies , Cardiopatías Congénitas , Defectos del Tabique Interatrial , Discapacidad Intelectual , Inestabilidad de la ArticulaciónRESUMEN
Young Simpson syndrome is a rare malformation syndrome characterized by congenital hypothyroidism, dysmorphic face, mental retardation, severe postnatal growth retardation, hypotonia and congenital heart abnormalities. In the present study, we report a case of 4-year-old girl with Young Simpson syndrome for the first case in Korea.