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[Dyscephalia-cataracta congenita-hypotrichosis (DCH) syndrome (Ullrich-Fremerey-Dohna, Hallermann-Streiff, Francois). Report of a case showing extrapyramidal hyperkinesia and dementia (author's transl)].

作者信息

Hopf H C, Pilz H, Althaus H H

出版信息

J Neurol. 1976 Apr 23;212(2):171-6. doi: 10.1007/BF00329160.

DOI:10.1007/BF00329160
PMID:57229
Abstract

In a 43-year-old man dyscephalia, cataracta congenita, and hypotrichosis were the outstanding features. These signs were first described in 1953 by Ullrich and Fremerey-Dohna as a clinical entity. Since 1958 the DCH syndrome was published under the synonyms of "Francois syndrome" and of "Hallermann-Streiff syndrome". However, as these authors did not add any essential details relevant for the classification of the syndrome we prefer to retain the term "Ullrich-Fremerey-Dohna syndrome". In our case in addition to the above mentioned and well known manifestations, extrapyramidal hyperkinesia of the choreoanthetotic type and servere mental deficiency accompanied by mild cerebral atrophy (revealed by pneumencephalography) were found.

摘要

相似文献

1
[Dyscephalia-cataracta congenita-hypotrichosis (DCH) syndrome (Ullrich-Fremerey-Dohna, Hallermann-Streiff, Francois). Report of a case showing extrapyramidal hyperkinesia and dementia (author's transl)].
J Neurol. 1976 Apr 23;212(2):171-6. doi: 10.1007/BF00329160.
2
Oligophrenia with the Hallermann-Streiff syndrome.智力发育迟缓合并哈勒曼-施特雷夫综合征。
J Neurol. 1979 May 2;220(3):211-4. doi: 10.1007/BF00705538.
3
[Cataract surgery for Hallermann-Streiff syndrome (author's transl)].哈勒曼-施特雷夫综合征的白内障手术(作者译)
Nippon Ganka Gakkai Zasshi. 1981 Feb;85(2):91-6.
4
[Anesthesia for a patient with Hallermann-Streiff syndrome (author's transl)].[哈勒曼-施特雷夫综合征患者的麻醉(作者译)]
Masui. 1982 Mar;31(3):251-5.
5
Hallermann-Streiff-François syndrome (dyscephalia mandibulo-oculo-facialis).哈勒曼-施特雷夫-弗朗索瓦综合征(下颌骨-眼-面部发育不全)
J Ment Defic Res. 1966 Dec;10(4):255-9. doi: 10.1111/j.1365-2788.1966.tb00190.x.
6
Oculomandibular dyscephaly (Hallermann-Streiff-François syndrome) associated with epilepsy.眼下颌发育不全(哈勒曼-施特雷夫-弗朗索瓦综合征)伴癫痫。
J Neurol. 1977 Jun 13;215(3):225-30. doi: 10.1007/BF00312481.
7
Hallermann-Streiff-Francois syndrome.
J Pediatr Ophthalmol. 1977 Nov-Dec;14(6):373-8.
8
Hallermann-Streiff syndrome and progeria.哈勒曼-施特雷夫综合征与早老症。
South Med J. 1975 Sep;68(9):1139-41. doi: 10.1097/00007611-197509000-00018.
9
Bilateral dislocation of the hip in Hallermann-Streiff syndrome. A case report.哈勒曼-施特雷夫综合征中的双侧髋关节脱位。病例报告。
J Bone Joint Surg Am. 1975 Oct;57(7):1002-4.
10
Central serous choroidopathy in the Hallermann-Streiff Syndrome.
Ann Ophthalmol. 1981 Aug;13(8):987-90.

引用本文的文献

1
Oligophrenia with the Hallermann-Streiff syndrome.智力发育迟缓合并哈勒曼-施特雷夫综合征。
J Neurol. 1979 May 2;220(3):211-4. doi: 10.1007/BF00705538.
2
Oculomandibular dyscephaly (Hallermann-Streiff-François syndrome) associated with epilepsy.眼下颌发育不全(哈勒曼-施特雷夫-弗朗索瓦综合征)伴癫痫。
J Neurol. 1977 Jun 13;215(3):225-30. doi: 10.1007/BF00312481.

本文引用的文献

1
Progeria with nanism and congenital cataracts in a five year old child.一名5岁儿童患早老症伴侏儒症和先天性白内障。
J Am Med Assoc. 1946 Nov 16;132(11):640-2. doi: 10.1001/jama.1946.02870460030009a.
2
[Syndrome similar to Vogt-Koyanagi's and Franzeschetti-Zwahlen mandibulofacial dysostosis].[类Vogt-小柳综合征及Franceschetti-Zwahlen下颌面骨发育不全综合征]
Arch Dermatol Syph. 1950;190(4):307-16. doi: 10.1007/BF00361619.
3
Further contributions to the study of the syndrome of Hallermann and Streiff. (Congenital cataract with "bird's face").
对哈勒曼和施特赖夫综合征(先天性白内障伴“鸟脸”)研究的进一步贡献。
Ophthalmologica. 1962;143:399-408. doi: 10.1159/000304270.
4
DYSCEPHALIA MANDIBULO-OCULO-FACIALIS. (HALLERMANN-STREIFF SYNDROME).下颌眼面部头畸形(哈勒曼-施特雷夫综合征)
Arch Dis Child. 1965 Feb;40(209):57-61. doi: 10.1136/adc.40.209.57.
5
Hallermann-Streiff syndrome, a dyscephaly with congenital cataracts and hypotrichosis.
Arch Ophthalmol. 1960 Mar;63:409-20. doi: 10.1001/archopht.1960.00950020411003.
6
A new syndrome; dyscephalia with bird face and dental anomalies, nanism, hypotrichosis, cutaneous atrophy, microphthalmia, and congenital cataract.一种新综合征:头颅异常伴鸟脸及牙齿异常、侏儒症、毛发稀少、皮肤萎缩、小眼畸形和先天性白内障。
AMA Arch Ophthalmol. 1958 Nov;60(5):842-62.
7
Ocular abnormalities in progeria.早老症中的眼部异常。
Acta Ophthalmol (Copenh). 1956;34(5):347-54.
8
[Brain abnormality with congenital cataract and hypotrichosis (Ullrich-Fremerey-Dohna); a contribution to constitutional typology and differential diagnosis].[伴有先天性白内障和毛发稀少的脑部异常(乌尔里希 - 弗雷梅雷 - 多纳综合征);对体质类型学和鉴别诊断的贡献]
Z Kinderheilkd. 1954;74(5):468-83.
9
[Mandibulofacial dysmorphism and status dysraphicus].[下颌面部发育不全与脊柱裂状态]
Ophthalmologica. 1954 Jan;127(1):1-13. doi: 10.1159/000301905.
10
[Dyscephalia with cataracta congenita and hypotrichosis as typical deformity complex].[以先天性白内障和毛发稀少为典型畸形组合的头颅颜面异常]
Ophthalmologica. 1953 Feb;125(2):73-90; contd. doi: 10.1159/000301369.