Rubinstein‐Taybi syndrome in the Netherlands
作者:
Raoul C. M Hennekam,
Marie‐Jose Van Den Boogaard,
Barbara J. Sibbles,
Hilda G. Van Spijker,
期刊:
American Journal of Medical Genetics
(WILEY Available online 1990)
卷期:
Volume 37,
issue S6
页码: 17-29
ISSN:0148-7299
年代: 1990
DOI:10.1002/ajmg.1320370604
出版商: Wiley Subscription Services, Inc., A Wiley Company
关键词: physical characteristics;radiographic characteristics;clinical history
数据来源: WILEY
摘要:
AbstractThis study reports the physical and radiographic characteristics of 45 patients with Rubinstein‐Taybi syndrome living in The Netherlands. All had broad halluces, but only 39 patients had broad thumbs. Microcephaly was present in 35% of patients. In addition to the well‐known characteristics, persistent fetal pads, a shawl scrotum, and a high frequency of fractures were found in several patients. Morbidity was mainly determined by the mental handicap, constipation, and recurrent upper respiratory infections, probably due to abnormal anatomy in the craniofacial region. Easy collapsible laryngeal walls may cause problems in sleep and anaesthe
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