1992Prenatal DiagnosisRequires access

Prenatal diagnosis of Fryns' syndrome

M. C. Pellissier, Neena Elezebeth Philip, A. Potier, C. Scheine, Ségolène Aymé, J. F. Mattéi, F Giraud

Open publisher page 21 citations

Abstract

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.

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What this paper is about

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.

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OpenAlex reports 21 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available abstract

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.

Key concepts: In utero, Prenatal diagnosis, Medicine, Pregnancy, Obstetrics, Pediatrics, Fetus, Genetics

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