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The Langer-Giedion syndrome: report of a 22-year old woman.

作者信息

Wilson W G, Herrington R T, Aylsworth A S

出版信息

Pediatrics. 1979 Oct;64(4):542-5.

PMID:315049
Abstract

A 22-year-old woman with the Langer-Giedion syndrome and delayed puberty is presented. Pertinent features include a bulbous nose, sparse hair, protruding ears, multiple cartilaginous exostoses, cone-shaped phalangeal epiphyses, short stature, microcephaly, and mental retardation. She is the oldest patient thus far described with this condition, and is compared to the ten previously published cases. The clinical course of patients with the Langer-Giedion syndrome and the possibility of malignant change in the exostoses have not been established.

摘要

相似文献

1
The Langer-Giedion syndrome: report of a 22-year old woman.
Pediatrics. 1979 Oct;64(4):542-5.
2
Langer - Giedion Syndrome.朗格-吉迪恩综合征
J Assoc Physicians India. 1982 Mar;30(3):173-4.
3
[Trichorhinophalangeal syndrome. Apropos of a case].
Ann Dermatol Venereol. 1985;112(12):973-80.
4
Trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome).II型毛发鼻指综合征(朗格-吉迪恩综合征)。
Dermatol Online J. 2001 Dec;7(2):8.
5
The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II).
Eur J Pediatr. 1979 Sep;132(1):55-9. doi: 10.1007/BF00443205.
6
The orthopaedic manifestations of the Langer-Giedion syndrome.朗格-吉迪恩综合征的骨科表现。
Orthop Rev. 1992 Jan;21(1):31-5.
7
Tricho-rhino-phalangeal syndrome type II: Langer-Giedion syndrome in a 2.5 years-old boy.
J Genet Hum. 1980 Mar;28(1):53-6.
8
The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature.伴有外生骨疣的毛发-鼻-指综合征(或朗格-吉迪恩综合征):另外4例无智力发育迟缓的患者及文献复习
Am J Med Genet. 1984 Sep;19(1):81-112. doi: 10.1002/ajmg.1320190110.
9
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.一个编码锌指蛋白的新基因发生突变会导致I型毛发鼻指综合征。
Nat Genet. 2000 Jan;24(1):71-4. doi: 10.1038/71717.
10
[Trichorhinophalangeal syndrome].
Lijec Vjesn. 1993 May-Jun;115(5-6):163-5.

引用本文的文献

1
Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?朗格-吉迪恩综合征(TRP II综合征)中8号染色体长臂的末端或中间缺失?
Hum Genet. 1983;64(2):163-6. doi: 10.1007/BF00327117.
2
Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46, XY or XX, del (8) (q23.3q24.13).两例患有相同8号染色体长臂间质性缺失的朗格-吉迪恩综合征:46,XY或XX,del(8)(q23.3q24.13) 。
Hum Genet. 1983;64(1):90-3. doi: 10.1007/BF00289486.