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Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound.

ABSTRACT: This article hypothesizes that it is possible to detect and diagnose both the autosomal recessive and dominant forms prenatally using ultrasound. By focusing on the characteristic phenotypical presentation, the examinator is able to diagnose the syndrome prenatally, which is of clinical importance to the parents and counseling for the consideration of terminating the pregnancy.

SUBMITTER: Jeppesen BF

PROVIDER: S-EPMC5494388 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature

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Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound.

Jeppesen Bolette F BF Hove Hanne B HB Kreiborg Sven S Hermann Nuno V NV Darvann Tron A TA Jørgensen Finn Stener FS

Clinical case reports 20170516 7

This article hypothesizes that it is possible to detect and diagnose both the autosomal recessive and dominant forms prenatally using ultrasound. By focusing on the characteristic phenotypical presentation, the examinator is able to diagnose the syndrome prenatally, which is of clinical importance to the parents and counseling for the consideration of terminating the pregnancy. ...[more]

PMID: 28680597

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Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.

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Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.

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DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

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