Occipital horn syndrome: report of a patient and review of the literature
作者:
Masato Tsukahara,
Kiyoshi Imaizumi,
Shinya Kawai,
Tadashi Kajii,
期刊:
Clinical Genetics
(WILEY Available online 1994)
卷期:
Volume 45,
issue 1
页码: 32-35
ISSN:0009-9163
年代: 1994
DOI:10.1111/j.1399-0004.1994.tb03986.x
出版商: Blackwell Publishing Ltd
关键词: Ehlers‐Danlos IX;occipital horn;review of literature;X‐linked cutis laxa
数据来源: WILEY
摘要:
We report an 18‐year‐old boy with occipital horn syndrome and we review the 20 cases previously published with this syndrome. The distinctive features common to all patients were unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary abnormalities. The skeletal abnormalities included occipital horns, short, broad clavicles, deformed radii, ulnae, and humeri, narrowing of the rib cage, undercalci‐fied long bones with thin cortical walls and coxa valga. Occipital horn syndrome is inherited in an X‐linked recessive fashion. Our analysis indicates that occipital horn syndrome is associated with a recognizable characteristic ph
点击下载:
PDF
(418KB)
返 回