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An osteosclerotic form of Robinow syndrome.
Am J Med Genet A. 2014 Oct; 164A(10):2638-42.AJ

Abstract

Robinow syndrome (RS) is a clinically and genetically heterogenous condition primarily characterized by short stature, mesomelia, genital hypoplasia, oral abnormalities, and a facial gestalt that includes hypertelorism, a short nose, and a broad mouth. The disorder exists in both a dominant and a more severe recessive form. Here two unrelated cases of sporadic RS are described with the additional finding of axial and appendicular osteosclerosis. These two patients, coupled with three additional patients previously described in the literature, may represent a distinct sub-phenotype of this condition.

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Authors+Show Affiliations

Bunn KJ
Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Lai A
No affiliation info available
Al-Ani A
No affiliation info available
Farella M
No affiliation info available
Craw S
No affiliation info available
Robertson SP
No affiliation info available

MeSH

Abnormalities, MultipleAdolescentChildCraniofacial AbnormalitiesDwarfismFaceFemaleHumansLimb Deformities, CongenitalMaleOsteosclerosisPhenotypeUrogenital Abnormalities

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

25045061

Citation

Bunn, Kieran J., et al. "An Osteosclerotic Form of Robinow Syndrome." American Journal of Medical Genetics. Part A, vol. 164A, no. 10, 2014, pp. 2638-42.
Bunn KJ, Lai A, Al-Ani A, et al. An osteosclerotic form of Robinow syndrome. Am J Med Genet A. 2014;164A(10):2638-42.
Bunn, K. J., Lai, A., Al-Ani, A., Farella, M., Craw, S., & Robertson, S. P. (2014). An osteosclerotic form of Robinow syndrome. American Journal of Medical Genetics. Part A, 164A(10), 2638-42. https://doi.org/10.1002/ajmg.a.36677
Bunn KJ, et al. An Osteosclerotic Form of Robinow Syndrome. Am J Med Genet A. 2014;164A(10):2638-42. PubMed PMID: 25045061.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - An osteosclerotic form of Robinow syndrome. AU - Bunn,Kieran J, AU - Lai,Angeline, AU - Al-Ani,Azza, AU - Farella,Mauro, AU - Craw,Susan, AU - Robertson,Stephen P, Y1 - 2014/07/14/ PY - 2014/03/16/received PY - 2014/06/16/accepted PY - 2014/7/22/entrez PY - 2014/7/22/pubmed PY - 2015/6/5/medline KW - Robinow syndrome KW - hyperosteosis KW - oligodontia KW - osteosclerosis SP - 2638 EP - 42 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 164A IS - 10 N2 - Robinow syndrome (RS) is a clinically and genetically heterogenous condition primarily characterized by short stature, mesomelia, genital hypoplasia, oral abnormalities, and a facial gestalt that includes hypertelorism, a short nose, and a broad mouth. The disorder exists in both a dominant and a more severe recessive form. Here two unrelated cases of sporadic RS are described with the additional finding of axial and appendicular osteosclerosis. These two patients, coupled with three additional patients previously described in the literature, may represent a distinct sub-phenotype of this condition. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/25045061/An_osteosclerotic_form_of_Robinow_syndrome_ L2 - https://doi.org/10.1002/ajmg.a.36677 DB - PRIME DP - Unbound Medicine ER -