Kurzel R B, Prabhu R
Cardiology. 1981;67(1):23-30. doi: 10.1159/000173225.
A patient presenting with hypercalcemia was found to have idiopathic hypertrophic subaortic stenosis and phenotypic Turner's syndrome. She has 3 daughters with phenotypic Turner's syndrome. 1 with a thickened interventricular septum and a son with asymmetric septal hypertrophy without obstruction and also possibly with hypercalcemia. Chromosome-banding studies revealed a normal 46,XX karyotype with no structural defects noted. The need for further studies of the incidence of hypercalcemia in idiopathic hypertrophic subaortic stenosis and in all the aortic outflow obstruction syndromes is suggested along with parathyroid function studies.
一名出现高钙血症的患者被发现患有特发性肥厚性主动脉瓣下狭窄和表型特纳综合征。她有3个患有表型特纳综合征的女儿，其中1个有室间隔增厚，还有1个儿子患有不对称性室间隔肥厚但无梗阻，也可能患有高钙血症。染色体显带研究显示核型为正常的46,XX，未发现结构缺陷。建议对特发性肥厚性主动脉瓣下狭窄及所有主动脉流出道梗阻综合征中高钙血症的发生率进行进一步研究，并开展甲状旁腺功能研究。
