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PRENATAL ULTRASOUND FINDINGS IN HYDROLETHALUS: CONTINUING DIFFICULTIES IN DIAGNOSIS
Author(s) -
NORGARD MICHAEL,
YANKOWITZ JEROME,
RHEAD WILLIAM,
KANIS ADAM B.,
HALL BRYAN D.
Publication year - 1996
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199602)16:2<173::aid-pd821>3.0.co;2-i
Subject(s) - prenatal diagnosis , medicine , polydactyly , dysplasia , prenatal ultrasound , trisomy , ultrasound , pediatrics , obstetrics , anatomy , fetus , radiology , pathology , pregnancy , genetics , biology
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.