Palmerio G, Rosaschino P, Castelli G, Zambetti E, Bianchi P, Martinelli D
Divisione di Ginecologia e Ostetricia, Ospedale Bolognini, Seriate, Bergamo.
Minerva Ginecol. 1997 Jan-Feb;49(1-2):49-52.
Steinert's syndrome is a systemic disease with autosome mother-to-child transmission, characterized by myotonia and muscular dystrophia. The syndrome's clinical characteristics include: respiratory and alimentation diseases, facial diplegia, generalized hypotonia, areflexia, atrophy, arthrogryposis, hydramnios, retard in psychomotor development, cataract and genital disorders. A case of pregnancy occurs in Steinert syndrome's patient with hydramnios as a predominant symptom, is presented. At birth, in the congenital neonatal form, there is grave, generalized hypotonia which causes a very quick death of the newborn. There are not many characters which can be found out by ultrasound: hydramnios, reduction of fetal tone and active movements, micrognathia. Consequently it is of the utmost importance in those cases an adequate prenatal genetic counseling and a correct obstetrical management.
斯坦纳特综合征是一种常染色体母婴传播的全身性疾病，其特征为肌强直和肌肉萎缩。该综合征的临床特征包括：呼吸和营养疾病、面瘫、全身肌张力减退、无反射、萎缩、关节挛缩、羊水过多、精神运动发育迟缓、白内障和生殖器疾病。本文介绍了一例以羊水过多为主要症状的斯坦纳特综合征患者妊娠病例。出生时，先天性新生儿型表现为严重的全身肌张力减退，可导致新生儿很快死亡。超声检查可发现的特征不多：羊水过多、胎儿肌张力降低和活动减少、小颌畸形。因此，在这些病例中，充分的产前遗传咨询和正确的产科管理至关重要。
