Premium
Prenatal diagnosis of Fryns' syndrome
Author(s) -
Pellissier M. C.,
Philip N.,
Potier A.,
Scheine C.,
Aymé S.,
Mattei J. F.,
Giraud F.
Publication year - 1992
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.1970120410
Subject(s) - in utero , prenatal diagnosis , medicine , pregnancy , obstetrics , pediatrics , fetus , genetics , biology
We report on a new case of ultrasonographic prenatal diagnosis of Fryns' syndrome during the second pregnancy of a young woman whose first child died 90 min after birth and was diagnosed as having this autosomal recessive condition. The feasibility of diagnosis in utero and timing in the phenotypic expression of this multimalformation syndrome are discussed.