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.
Links
MeSH
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 -