作者报道一例白肤色男性患儿,核型为47,XY,+22。具有多种先天缺陷和畸形,严重的生长发育迟缓和精神运动性障碍及特殊的临床表现。临床表现为出生时体重1560g,身长44cm,表现为明显的耳低位畸形,塌鼻梁,双侧内眦赘皮,眼距宽,腭裂,头小,Apgar评分6～7分。出生18天时面部扁平,鼻子短,鼻梁低,鼻孔前倾,上唇长,颌小,耳明显低位畸形;耳廓畸形,眼球突出,睑裂轻度下倾,头过小且枕部后突,前囟巨大,腭裂,另外表现为乳头低位不对称,乳 The authors report a white male patient with karyotype 47, XY, +22. Has a variety of birth defects and deformities, severe growth retardation and psychomotor disorders and special clinical manifestations. Clinical manifestations of birth weight 1560g, 44cm in length, showed significant low malformations, collapsed nose, bilateral epicanthus, wide eyes, cleft palate, small head, Apgar score 6 to 7 points. 18 days of age when the face flat, short nose, low nose, nostril forward, the upper lip long, small jaw, the ear was significantly lower deformity; auricular deformity, eyeballs, palpebral fissure mild declination, head too small and occipital prominence, Anterior fontanelle, cleft palate, the other for the nipple low asymmetry, milk