先天性甲状旁腺功能减退、眼裂、单侧肾发育不全及畸形特征。
Congenital hypoparathyroidism, ocular colobomata, unilateral renal agenesis and dysmorphic features.
作者信息
Baldellou A, Boné J, Tamparillas M, Rivas A, Pena M, Solsona B
机构信息
Hospital Infantil Miguel Servet, Zaragoza, Spain.
出版信息
Genet Couns. 1991;2(4):245-7.
PMID:1799425
Abstract
A boy with primary hypoparathyroidism and dysmorphic features suggesting a partial DiGeorge sequence is presented. Different possibilities of genetic counseling are considered in the absence of a definitive etiological diagnosis.
摘要
本文报告了一名患有原发性甲状旁腺功能减退症且具有提示部分DiGeorge序列的畸形特征的男孩。在缺乏明确病因诊断的情况下，考虑了遗传咨询的不同可能性。
Zotero 插件