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蛇形腓骨-多囊肾综合征。是梅尼克-尼德尔斯综合征的一种变异型还是一种独立的疾病？

Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity?

作者信息

Exner G U

机构信息

Orthopädische Universitätsklinik Balgrist, Zurich, Switzerland.

出版信息

Eur J Pediatr. 1988 Jun;147(5):544-6. doi: 10.1007/BF00441987.

DOI:10.1007/BF00441987
PMID:3409932
Abstract

A 5-year-old girl is reported with small stature, unusual facial appearance, polycystic kidneys and elongated curved fibulae as the most impressive radiographic finding. From the close similarity with another girl described recently and discrepancies between these two patients and others with Melnick-Needles syndrome it is assumed that they may present a separate hitherto unreported entity or syndrome.

摘要

据报道，一名5岁女孩身材矮小，面部外观异常，患有多囊肾，其最显著的影像学表现是腓骨细长弯曲。鉴于与最近描述的另一名女孩极为相似，且这两名患者与其他患有梅尔尼克-尼德尔斯综合征的患者存在差异，推测他们可能代表一种迄今未报告的独立疾病或综合征。

相似文献

1
Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity?蛇形腓骨-多囊肾综合征。是梅尼克-尼德尔斯综合征的一种变异型还是一种独立的疾病？
Eur J Pediatr. 1988 Jun;147(5):544-6. doi: 10.1007/BF00441987.
2
Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders.蛇形腓骨-多囊肾综合征与梅尔尼克-尼德尔斯综合征是不同的疾病。
Eur J Pediatr. 1993 Nov;152(11):916-21. doi: 10.1007/BF01957530.
3
Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity.进一步证明哈伊杜－切尼综合征与“蛇形腓骨－多囊肾综合征”为同一病症。
Am J Med Genet. 1998 Aug 6;78(5):474-81. doi: 10.1002/(sici)1096-8628(19980806)78:5<474::aid-ajmg14>3.0.co;2-c.
4
Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease.伴有蛇形腓骨和多囊肾病的哈伊杜-切尼综合征。
Pediatr Radiol. 2009 Jan;39(1):47-52. doi: 10.1007/s00247-008-0992-9. Epub 2008 Sep 25.
5
Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.梅尼克-尼德尔斯综合征、蛇形腓骨-多囊肾综合征和哈伊杜-切尼综合征的表型重叠：三例患者的临床和分子研究
Clin Dysmorphol. 2007 Jan;16(1):27-33. doi: 10.1097/01.mcd.0000228418.74413.52.
6
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.额颞-耳腭-指骨发育异常：一种涵盖梅尼克-尼德尔斯综合征、1型和2型耳腭-指骨综合征以及额骨-干骺端发育异常的单一疾病实体的临床证据。
Am J Med Genet. 2000 Feb 28;90(5):407-22. doi: 10.1002/(sici)1096-8628(20000228)90:5<407::aid-ajmg11>3.0.co;2-d.
7
Case report 717. Osteodysplasty (Melnick-Needles syndrome).
Skeletal Radiol. 1992;21(2):132-4. doi: 10.1007/BF00241842.
8
Mesomelic dysplasia with "normal or relatively long fibula", slight micrognathia and brachymetatarsals (IV-V) in a six-year-old girl.
Pediatr Radiol. 1983;13(1):47-50. doi: 10.1007/BF00975668.
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Melnick-Needles syndrome: osteodysplasty with kyphoscoliosis.
J Pediatr Orthop. 1983 Jul;3(3):387-91. doi: 10.1097/01241398-198307000-00022.
10
Melnick-Needles syndrome. Four new cases.
Pediatr Radiol. 1992;22(4):257-61. doi: 10.1007/BF02019852.

引用本文的文献

1
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.蛇纹石纤维多囊肾病综合征是 Hajdu-Cheney 综合征表型谱的一部分。
Eur J Hum Genet. 2012 Jan;20(1):122-4. doi: 10.1038/ejhg.2011.125. Epub 2011 Jun 29.
2
Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease.伴有蛇形腓骨和多囊肾病的哈伊杜-切尼综合征。
Pediatr Radiol. 2009 Jan;39(1):47-52. doi: 10.1007/s00247-008-0992-9. Epub 2008 Sep 25.
3
Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders.

本文引用的文献

1
Linear growth of long bones of extremities from infancy through adolescence; continuing studies.从婴儿期到青春期四肢长骨的线性生长；持续研究。
AMA Am J Dis Child. 1955 Jun;89(6):725-42.
2
DISTRIBUTION OF LENGTHS OF THE NORMAL FEMUR AND TIBIA IN CHILDREN FROM ONE TO EIGHTEEN YEARS OF AGE.1至18岁儿童正常股骨和胫骨长度的分布情况。
J Bone Joint Surg Am. 1964 Sep;46:1197-202.
3
[The Melnick-Needles Syndrome. Presentation of a case].
Minerva Pediatr. 1983 May 15;35(9):447-54.
蛇形腓骨-多囊肾综合征与梅尔尼克-尼德尔斯综合征是不同的疾病。
Eur J Pediatr. 1993 Nov;152(11):916-21. doi: 10.1007/BF01957530.
4
[Clinico-radiologic observations on a case of Melnick-Needles syndrome].
Pediatria (Napoli). 1983 Oct-Dec;91(4):441-8.
5
An undiagnosed bone dysplasia. A 2 family study of 4 generations and 3 generations.
Am J Roentgenol Radium Ther Nucl Med. 1966 May;97(1):39-48. doi: 10.2214/ajr.97.1.39.
6
[A case of osteodysplasty (Melnick-Needles syndrome)].
Arch Fr Pediatr. 1971 Apr;28(4):446-7.
7
Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity.梅尼克-尼德尔斯综合征（骨发育异常）。临床及影像学表现的异质性。
Helv Paediatr Acta. 1986 Oct;41(4):339-51.
8
[Body measurements, growth velocity and bone age of healthy children up to 12 years of age (longitudinal growth study Zurich) (author's trnasl)].
Helv Paediatr Acta. 1977;Suppl 37:1-44.