Lethal multiple pterygium syndrome: report of a new case with hydranencephaly.
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.
D000757:Anencephaly / Q000150:complications*; D006801:Humans; D006832:Hydranencephaly / Q000150:complications*; D008297:Male; D011625:Pterygium / Q000150:complications*; D013577:Syndrome