Barthe B, Cohen H, Saada P
Service de Gynécologie Obstétrique, Hôpital International de l'Université de Paris, Institut Mutualiste Montsouris.
J Gynecol Obstet Biol Reprod (Paris). 1995;24(1):57-62.
Fryns' syndrome was reported for the first time in 1979 in children who died neonatally of prematurity and respiratory distress. This lethal, autosomal recessive syndrome is characterized by a diaphragmatic defect, pulmonary hypoplasia, a "coarse" face and distal limb abnormalities. This report presents a prenatal ultrasonographic diagnosis at 20 weeks' gestation of a case of Fryns' syndrome and defines the frequency of each of its abnormalities from the 38 cases listed in the literature.
1979年首次报道了弗林斯综合征,患病新生儿死于早产和呼吸窘迫。这种致死性常染色体隐性综合征的特征为膈肌缺损、肺发育不全、面部“粗糙”及肢体远端异常。本报告介绍了1例妊娠20周时弗林斯综合征的产前超声诊断,并根据文献中列出的38例病例确定了其各异常表现的发生率。