Oberlechner E, Seidel H, Schramm T, Rehder H, Gullotta F, Stechele F, Högel B, Rothemund E, Fichtel G
Gyn. Geburtshilfl. Abt. Akad. Lehrkrk. München-Neuperlach.
Geburtshilfe Frauenheilkd. 1994 May;54(5):276-85. doi: 10.1055/s-2007-1022840.
The Pena Shokeir phenotype (PSP) is characterised by multiple ankyloses, camptodactyly, facial dysmorphisms and lung hypoplasia with hydramnios. The basic neuromuscular defect leads, through a fetal hypokinesia-akinesia, to the development of this nonspecific phenotype and a respiratory insufficiency with early postnatal mortality. Severe central nervous anomalies are described in one-third of the reported cases. In this paper a foetus with PSP and 4 further foetuses with severe cerebral malformations and only discrete lung hypoplasia are described. It is not clear whether the cerebral malformations represent a primary or secondary developmental defect.
佩纳-绍凯尔综合征（PSP）的特征为多处关节强直、屈曲指、面部畸形以及伴有羊水过多的肺发育不全。基本的神经肌肉缺陷通过胎儿运动减少-运动不能，导致这种非特异性表型的发展以及呼吸功能不全，进而导致出生后早期死亡。在三分之一的报告病例中描述了严重的中枢神经异常。本文描述了一名患有PSP的胎儿以及另外4名患有严重脑畸形且仅有轻微肺发育不全的胎儿。目前尚不清楚脑畸形是原发性还是继发性发育缺陷。
