Prenatal ultrasound findings in hydrolethalus: continuing difficulties in diagnosis.
We present the prenatal ultrasound findings in a case of hydrolethalus. This case illustrates ongoing problems in differentiating hydrolethalus, both pre- and postnatally, from other midline malformation syndromes including Pallister-Hall, Smith-Lemli-Opitz, pseudo-trisomy 13, oral facial-digital syndrome, and Meckel syndrome. Hydrolethalus can also be difficult to distinguish from certain skeletal dysplasias such as the short rib-polydactyly syndromes and campomelic dysplasia. Tests which can aid in diagnosis are presented.
Norgard
M
M
Department of Obstetrics and Gynecology, University of Iowa College of Medicine, Iowa City, USA.
Yankowitz
J
J
Rhead
W
W
Kanis
A B
AB
Hall
B D
BD
D000328:Adult; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging*; D007231:Infant, Newborn; D008297:Male; D006831:Polyhydramnios / Q000000981:diagnostic imaging*; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal