Premium
The prenatal diagnosis of joubert's syndrome of familial agenesis of the cerebellar vermis
Author(s) -
Campbell Stuart,
Tsannatos Christina,
Pearce J. Malcolm
Publication year - 1984
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.1970040512
Subject(s) - agenesis , joubert syndrome , cerebellar vermis , prenatal diagnosis , medicine , gestation , pregnancy , obstetrics , anatomy , fetus , cerebellum , pediatrics , biology , genetics , cilium
The prenatal diagnosis by ultrasound examination of Joubert's syndrome of familial agenesis of the cerebellar vermis is described allowing termination of pregnancy ai 26 weeks gestation. The diagnosis was made by a comparison of the prenatal ultrasound examination with computerized axial tomography obtained from the siblings with the same condition.