Cantu syndrome and hypopituitarism: implications for endocrine monitoring

被引:0
作者
Theis, Nicholas J. [1 ]
Calvert, Toby [1 ]
McIntyre, Peter [2 ]
Robertson, Stephen P. [2 ]
Wheeler, Benjamin J. [2 ]
机构
[1] Univ Otago, Dunedin Sch Med, Dunedin, New Zealand
[2] Univ Otago, Dunedin Sch Med, Womens & Childrens Hlth, Dunedin, New Zealand
关键词
OSTEOCHONDRODYSPLASIA; CHANNELS;
D O I
10.1503/EDM-19-0103
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Cantu syndrome, or hypertrichotic osteochondrodysplasia, is a rare, autosomal dominant genetically heterogeneous disorder. It is characterized by hypertrichosis, cardiac and skeletal anomalies and distinctive coarse facial features. We report a case where slowed growth velocity at 13 years led to identification of multiple pituitary hormone deficiencies. This adds to other reports of pituitary abnormalities in this condition and supports inclusion of endocrine monitoring in the clinical surveillance of patients with Cantu syndrome.
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页数:5
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[11]   Cantu Syndrome Is Caused by Mutations in ABCC9 [J].
van Bon, Bregje W. M. ;
Gilissen, Christian ;
Grange, Dorothy K. ;
Hennekam, Raoul C. M. ;
Kayserili, Hulya ;
Engels, Hartmut ;
Reutter, Heiko ;
Ostergaard, John R. ;
Morava, Eva ;
Tsiakas, Konstantinos ;
Isidor, Bertrand ;
Le Merrer, Martine ;
Eser, Metin ;
Wieskamp, Nienke ;
de Vries, Petra ;
Steehouwer, Marloes ;
Veltman, Joris A. ;
Robertson, Stephen P. ;
Brunner, Han G. ;
de Vries, Bert B. A. ;
Hoischen, Alexander .
AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 90 (06) :1094-1101