Prenatal diagnosis of Fryns' syndrome.
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.
Pellissier
M C
MC
Centre de Diagnostic Prénatal, Hôpital d'enfants de la Timone, Marseille, France.
Philip
N
N
Potier
A
A
Scheiner
C
C
Aymé
S
S
Mattei
J F
JF
Giraud
F
F
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D003964:Diaphragm / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D005865:Gestational Age; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014463:Ultrasonography