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塞克尔综合征:一例病例报告。

Seckel's syndrome: a case report.

作者信息

Di Blasi S, Belvedere M, Pintacuda S, Di Blasi U, Ferotti N, Galante S, Galante D

机构信息

Department of Internal Medicine, University of Palermo Medical School, Italy.

出版信息

J Med. 1993;24(1):75-96.

PMID:8501405
Abstract

The authors describe a case similar to the complex syndrome described by Seckel (1960), "dwarf-headed dwarfism." This case differs from others previously reported because of slight hypophyseal hypoplasia with a slight reduction of human chorionic gonadotrophin (HCG) serum levels, and because of the parent's consanguinity (first cousins). A comparative critical examination was carried out on the 44 cases of Seckel's syndrome described in the literature. Only 19 of these cases appear to be comparable with Seckel's description, while the others are dubious, due to incomplete data. Some can be identified as ordinary cases of dwarfism with microcephaly or mental deficit. Until more precise and objective parameters are established, it would be advisable to refer to this particular form of dwarfism as "Virchow-Seckel type dwarf-headed dwarfism," in order to avoid using the more binding term "syndrome" and the misleading term "bird-headed."

摘要

作者描述了一个与Seckel(1960年)所描述的复杂综合征“小头侏儒症”相似的病例。该病例与先前报道的其他病例不同,原因在于存在轻微的垂体发育不全以及人绒毛膜促性腺激素(HCG)血清水平略有降低,还在于父母为近亲(表亲)。对文献中描述的44例Seckel综合征病例进行了比较性的严格审查。其中只有19例似乎与Seckel的描述相符,而其他病例由于数据不完整而存疑。有些可被认定为伴有小头畸形或智力缺陷的普通侏儒症病例。在建立更精确和客观的参数之前,为避免使用更具限定性的术语“综合征”和具有误导性的术语“鸟头”,将这种特殊形式的侏儒症称为“Virchow-Seckel型小头侏儒症”是明智的。

相似文献

1
Seckel's syndrome: a case report.塞克尔综合征:一例病例报告。
J Med. 1993;24(1):75-96.
2
[Bird headed dwarfism (Seckel's syndrome) in a girl (author's transl)].
Monatsschr Kinderheilkd (1902). 1973 Nov;121(11):689-91.
3
[Seckel's syndrome: a form of chondrodysplasia? (author's transl)].塞克尔综合征:软骨发育不良的一种形式?(作者译)
An Esp Pediatr. 1982 May;16(5):406-15.
4
Pigmentary changes in Seckel's syndrome.塞克尔综合征的色素沉着变化。
J Am Acad Dermatol. 1979 Jul;1(1):52-4. doi: 10.1016/s0190-9622(79)70004-1.
5
Seckel's syndrome: presentation of one case associated with Legg-Calvé-Perthes disease.
Chir Organi Mov. 1991 Apr-Jun;76(2):193-5.
6
[Seckel's syndrome associated with atrial septal defect: a case report and review of the literature in Japan].[伴有房间隔缺损的塞克尔综合征:1例报告及日本文献复习]
Kyobu Geka. 1991 May;44(5):411-3.
7
Bird headed dwarf (Seckel's syndrome).鸟头侏儒症(塞克尔综合征)。
Indian Pediatr. 1975 Sep;12(9):935-7.
8
[Diastrophic dwarfism in an infant (description of a case)].
Pol Przegl Radiol Med Nukl. 1971;35(1):1-8.
9
Seckel's syndrome or bird-headed dwarfism (2 cases reports).塞克尔综合征或鸟头侏儒症(2例报告)。
Indian Pediatr. 1978 Nov;15(11):949-51.
10
Seckel's syndrome and malformations of cortical development: report of three new cases and review of the literature.塞克尔综合征与皮质发育畸形:三例新病例报告及文献复习
J Child Neurol. 2001 May;16(5):382-6. doi: 10.1177/088307380101600516.

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