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De Lange氏综合征由Corelia de Lange于1933年首先报告。病因不明,多数人认为是由于基因突变所致或为常染色体隐性遗传。临床特征为:出生时身材矮小,体重低,肌张力高,哭声微弱、低沉。头短小,浓眉相连呈“一”字形。睫毛粗长卷曲,鼻梁下塌,鼻孔向前,人中浅长。上唇薄,口角向下,腭弓高,耳位低。肢体短,手足小,掌纹异常。常有并指、缺指,小指向桡侧弯曲。皮肤呈大理石样花纹。外生殖器发育不良,隐睾。智力低下,大多数智商在35以下。其它尚有多毛、近视、散光、小角膜、腭裂、先天性心脏病等。多数患者染色体核型正常,但也有各种畸变的报告。作者曾见本征患者一例:患儿,男,第2
De Lange’s syndrome was first reported by Corelia de Lange in 1933. Etiology is unknown, most people think is due to genetic mutations or autosomal recessive inheritance. Clinical features: short stature at birth, low body weight, high muscle tension, weak cries, low. Short head, thick eyebrows were connected “a ” shape. Thick curly eyelashes, nose collapsed, nostril forward, shallow people. Upper lip thin, mouth down, palatal arch high, low ear. Short limbs, small hands and feet, palmprint abnormalities. Often and refers to the missing fingers, small radial bend. The skin is marble-like pattern. Genital hypoplasia, cryptorchidism. Mental retardation, most IQ below 35. Others are hirsutism, myopia, astigmatism, small cornea, cleft palate, congenital heart disease. Most patients with normal karyotype, but there are also a variety of reports of distortion. The author has seen an example of an intrinsic patient: child, male, second