患儿女,3岁。其父母系随机婚配,表型均正常,无遗传病史。患儿头胎足月顺产,出生时体重2000g。新生儿期曾出现过非凹陷性水肿,以手、足背部明显,未作处理水肿渐退。8月龄时再次出现原因不明的全身水肿,应用利尿剂后消退。婴儿期反复发生呼吸道感染,且怕热、多汗。3岁时因发育欠佳就诊。体查:身高83cm,体重10kg。内眦赘皮明显,眼距正 Children with children, 3 years old. The parents were randomly married, the phenotype are normal, no genetic history. Children with full-term first-term birth, birth weight 2000g. Non-pitting edema has occurred in the neonatal period, with obvious hand, foot back, no treatment of edema receded. 8-month-old again when there is an unknown cause of systemic edema, application of diuretic subsided. Recurrent respiratory infections in infancy, and afraid of heat, sweating. 3 years old due to poor development of treatment. Physical examination: height 83cm, weight 10kg. Epicanthus epidermis obvious, eyes are positive