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Prenatal ultrasonographic diagnosis of radial‐ray reduction malformations
Author(s) -
Brons Jozien T. J.,
Van Der Harten Hans J.,
Van Geijn Herman P.,
Wladimiroff Juri W.,
Niermeuer Martinus F.,
Lindhout Dick,
Stuart Patricia A.,
Meijer Chris J. L. M.,
Arts Nico F. Th
Publication year - 1990
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/pd.1970100502
Subject(s) - medicine , prenatal diagnosis , fetus , ultrasonography , genitourinary system , genetic counseling , ultrasound , medical diagnosis , obstetrics , congenital malformations , pediatrics , pregnancy , radiology , genetics , biology
Radial‐ray reduction malformations (RRRMs) may occur isolated or in association with other anomalies. The data of seven fetuses born with RRRMs were collected. Six fetuses had associated lethal abnormalities of the central nervous system, urogenital system, and/or heart, detected by ultrasound. In five cases, it was possible to establish the precise diagnosis, enabling an informed prognosis and subsequent genetic counselling. The diagnoses were: Edwards syndrome ( n =3), VACTERL association ( n =1), and Poland‐Moebius‐like complex ( n = 1). In two cases, a complete diagnosis was not possible because of inadequate evaluation of these fetuses before and/or after birth. A proposal is given for the diagnostic approach for infants with RRRMs detected in the antenatal period by means of ultrasonography.