近年来X连锁智力低下已引起注意,而非特异性的X连锁智力低下半数可能是Xq28脆性部位引起的,X连锁多发畸形综合征已渐增多。本文报道两例小于6个月的男性Coffin-Lowry综合征的诊断。例1:男,第一胎,父母非近亲婚配。其母妊娠期正常,足月自然分娩,无并发症。5个月时因胃肠紊乱就诊,查体:发育欠佳,体重6,600克、身长63cm、头围41.5cm、前囟大,肌张力低、关节过度松弛,前额突出,眶上嵴显著、弓形的浓眉、眼距 In recent years, X-linked mental retardation has attracted attention, and non-specific half of X-linked mental retardation may be caused by Xq28 fragile parts, X-linked multiple malformation syndrome has been increasing. This article reports the diagnosis of Coffin-Lowry syndrome in two men less than 6 months old. Example 1: Male, first child, parents non-relatives marriage. The mother of normal pregnancy, full-term natural childbirth, no complications. 5 months due to gastrointestinal disorders, physical examination: poor development, body weight 6,600 grams, length 63cm, head circumference 41.5cm, anterior fontanel, low muscle tension, excessive relaxation of the joints, prominent forehead, superior orbital ridge, arch Thick eyebrows, eye distance