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The de Barsy syndrome.

作者信息

Arazi M, Kapicioğlu M I, Mutlu M

机构信息

Department of Orthopedic Surgery and Traumatology, Selçuk University Faculty of Medicine, Konya, Turkey.

出版信息

Turk J Pediatr. 2001 Jan-Mar;43(1):79-84.

PMID:11297166
Abstract

We report a child with de Barsy syndrome, which is a very rare, genetically transmitted clinical entity associated with mental and growth retardation, severe cutis laxa, joint laxity and various ocular and skeletal system findings. The patient was operated to treat her orthopedic disabilities. Typical findings of this case with eight-year follow-up beginning from birth are described and compared with previously reported cases. The main aim of this paper was to describe the diagnostic and therapeutic difficulties of this rarely encountered syndrome.

摘要

相似文献

1
The de Barsy syndrome.
Turk J Pediatr. 2001 Jan-Mar;43(1):79-84.
2
[Ocular findings in Barsy syndrome].
Klin Monbl Augenheilkd. 1985 Nov;187(5):369-70. doi: 10.1055/s-2008-1054336.
3
Congenital corneal opacification in De Barsy syndrome.
Arch Ophthalmol. 2001 Feb;119(2):285-8.
4
The De Barsy syndrome.
J Cutan Pathol. 2004 Oct;31(9):616-24. doi: 10.1111/j.0303-6987.2004.00241.x.
5
Anesthesia considerations for patients with de Barsy syndrome.巴尔斯基综合征患者的麻醉考虑因素。
J Clin Anesth. 2010 Nov;22(7):499-504. doi: 10.1016/j.jclinane.2010.01.004.
6
De Barsy syndrome: a review of the phenotype.德巴尔西综合征：表型综述
Clin Dysmorphol. 2008 Apr;17(2):99-107. doi: 10.1097/MCD.0b013e3282f4a964.
7
De Barsy syndrome--an autosomal recessive, progeroid syndrome.德巴尔西综合征——一种常染色体隐性早衰综合征。
Eur J Pediatr. 1985 Nov;144(4):348-54. doi: 10.1007/BF00441776.
8
[The De Barsy syndrome].
Tijdschr Kindergeneeskd. 1989 Apr;57(2):53-7.
9
[De Barsy-Moens-Dierckx syndrome: unusual course in a neonate].[德巴尔西 - 莫恩斯 - 迪尔克斯综合征：一名新生儿的不寻常病程]
Klin Padiatr. 1994 Nov-Dec;206(6):444-6. doi: 10.1055/s-2008-1046648.
10
Cutis laxa in Kabuki make-up syndrome.歌舞伎综合征中的皮肤松弛症
J Am Acad Dermatol. 2005 Nov;53(5 Suppl 1):S247-51. doi: 10.1016/j.jaad.2005.02.007.

引用本文的文献

1
De Barsy Syndrome: A Case Report of a Rare Genetic Disorder.德巴尔西综合征：一种罕见遗传性疾病的病例报告。
Cureus. 2023 Jan 2;15(1):e33280. doi: 10.7759/cureus.33280. eCollection 2023 Jan.
2
A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited.一名印度儿童的皮肤松弛症5年病程：再探德巴尔西综合征
Indian J Dermatol. 2016 Jan-Feb;61(1):81-4. doi: 10.4103/0019-5154.174031.