Smith-Lemli-Opitz syndrome in the fetus of the second trimester of pregnancy with a predominant involvement skeletal system
Abstract
We present a sporadic case of Smith-Lemli-Opitz syndrome (SLOS) in the fetus of the second trimester. The ultrasound (US) signs were similar to the syndrome of short ribs-polydactyly (SCRP). The diagnosis was established by molecular genetic testing. The atypical manifestations of SLOS are discussed and compared with literature data.
About the Authors
A. A. Lazarevich
Republican Scientific-Practical Centre «Mother and Child»
Russian Federation
Russian Federation
I. V. Novikova
Republican Scientific-Practical Centre «Mother and Child»
Russian Federation
Russian Federation
S. O. Miasnikov
Republican Scientific-Practical Centre «Mother and Child»
Russian Federation
Russian Federation
N. A. Venchikova
Republican Scientific-Practical Centre «Mother and Child»
Russian Federation
Russian Federation
E. I. Marahovskaya
Republican Scientific-Practical Centre «Mother and Child»
Russian Federation
Russian Federation
T. A. Plevako
Republican Scientific-Practical Centre «Mother and Child»
Russian Federation
Russian Federation
Review
For citations:
Lazarevich A.A., Novikova I.V., Miasnikov S.O., Venchikova N.A., Marahovskaya E.I., Plevako T.A. Smith-Lemli-Opitz syndrome in the fetus of the second trimester of pregnancy with a predominant involvement skeletal system. Medical Genetics. 2020;19(8):78-79. (In Russ.)
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