Mbakop A, Cox J N, Störmann C, Delozier-Blanchet C D
Am J Med Genet. 1986 Nov;25(3):575-9. doi: 10.1002/ajmg.1320250321.
A 28-week male fetus with the cardinal signs of the lethal multiple pterygium syndrome (multiple pterygia, congenital joint contractures, lung hypoplasia, facial abnormalities, and hydrops) is reported here. In addition, he had hydranencephaly, an anomaly not yet reported in this group of conditions. This potentially new form of the lethal multiple pterygium was detected prenatally by ultrasound examination. In discussing the case, we consider the probable autosomal recessive inheritance pattern and raise questions about the etiology and heterogeneity of this syndrome.
本文报道了一名28周大的男性胎儿,其具有致死性多发性翼状胬肉综合征的主要体征(多发性翼状胬肉、先天性关节挛缩、肺发育不全、面部异常和水肿)。此外,他还患有积水性无脑畸形,这是该组病症中尚未报道过的一种异常情况。这种潜在的致死性多发性翼状胬肉新形式是通过产前超声检查发现的。在讨论该病例时,我们考虑了可能的常染色体隐性遗传模式,并对该综合征的病因和异质性提出了疑问。