Duane-radial ray syndrome

Duane-radial ray syndrome (DRRS) is a genetic disorder that is characterized by a combination of Duane anomaly, ocular coloboma, and renal abnormalities. It is also known as Okihiro syndrome or acro-renal-ocular syndrome. The syndrome is characterized by the inability to abduct the eye (Duane anomaly), thenar hypoplasia, and radial aplasia. In addition, individuals with DRRS may also have renal and skeletal anomalies, hearing loss, and/or ear anomalies.From: Fetal and Perinatal Skeletal Dysplasias [2012], Handbook of Tumor Syndromes [2020]

Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*

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Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012

Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow

Radial ray defects: Holt-Oram syndrome (p. 464); prenatal exposure to teratogens (vitamin A, valproate, cocaine, thalidomide). Thrombocytopenia-absent radius (TAR) syndrome: bilateral radial aplasia, malformed but not absent thumbs, thrombocytopenia. Duane-radial ray syndrome (DRRS) is characterised by Duane anomaly, ocular coloboma, renal abnormalities.

Congenital extremity anomalies with a TBX5 pathogenic variant in consecutive IVF assisted pregnancies: a case report of Holt-Oram Syndrome

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Published in Journal of Obstetrics and Gynaecology, 2022

Omar Sobh, Robert O’Sullivan, Maurice J. Mahoney, Gary Kleinman

The upper-limb malformations are bilateral and often asymmetric (Huang 2002). The radius and thumb are most often involved and the severity may range from minor to severe (Huang 2002). There is significant variation in the cardiac manifestations of the disease which include septal defects or conduction abnormalities (Basson et al. 1994). The differential diagnosis includes VACTERL association, thrombocytopenia-absent radius syndrome, Fanconi anaemia, Duane-radial ray syndrome and Okihiro Syndrome (Newbury-Ecob et al. 1996).

Duane-radial ray syndrome

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Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*

Congenital extremity anomalies with a TBX5 pathogenic variant in consecutive IVF assisted pregnancies: a case report of Holt-Oram Syndrome