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Melnick-Needles syndrome. Four new cases.

作者信息

Eggli K, Giudici M, Ramer J, Easterbrook J, Madewell J

机构信息

Department of Radiology, Pennsylvania State University, Milton S. Hershey Medical Center, Hershey.

出版信息

Pediatr Radiol. 1992;22(4):257-61. doi: 10.1007/BF02019852.

DOI:10.1007/BF02019852
PMID:1523045
Abstract

Melnick-Needles syndrome is a rare connective tissue disorder producing somatic abnormalities with characteristic radiographic features. There are less than 35 documented cases reported to date. We present four new cases of Melnick-Needles Syndrome, one of which is the first reported Asian-ancestry patient. Two girls are daughters of one of Needle's original patients from family #2. Two others, from unrelated non-affected families, probably represent new mutations. All have characteristic radiographic features of the disorder.

摘要

相似文献

1
Melnick-Needles syndrome. Four new cases.
Pediatr Radiol. 1992;22(4):257-61. doi: 10.1007/BF02019852.
2
Melnick-Needles syndrome in males.男性梅尼克-尼德尔斯综合征
Am J Med Genet. 1987 May;27(1):153-8. doi: 10.1002/ajmg.1320270116.
3
Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear.
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Case report 717. Osteodysplasty (Melnick-Needles syndrome).
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[Melnick-Needles syndrome. Report of a case].[梅尼克-尼德尔斯综合征。一例报告]
Pediatr Med Chir. 1998 Mar-Apr;20(2):149-52.
6
Clinical and radiological aspects in Melnick-Needles syndrome.梅尼克-尼德尔斯综合征的临床和影像学表现
Rev Hosp Clin Fac Med Sao Paulo. 1999 Mar-Apr;54(2):69-72. doi: 10.1590/s0041-87811999000200007.
7
Melnick-Needles syndrome in a mother and her son.一位母亲及其儿子患梅尼克-尼德尔斯综合征。
Genet Couns. 1996;7(2):123-9.
8
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。
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Melnick-Needles syndrome associated with growth hormone deficiency: a case report.梅尼克-尼德尔斯综合征合并生长激素缺乏症:一例报告
J Clin Res Pediatr Endocrinol. 2009;1(5):248-51. doi: 10.4274/jcrpe.v1i5.248. Epub 2009 Aug 7.
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Hyperlaxity in males with Melnick-Needles syndrome.患有梅尼克-尼德尔斯综合征男性的关节过度松弛。
Am J Med Genet. 1988 Mar;29(3):607-11. doi: 10.1002/ajmg.1320290319.

引用本文的文献

1
Mandibular distraction osteogenesis reconstructed the upper airway in a case of Melnick-Needles syndrome.下颌骨牵张成骨术重建了一例梅尔尼克-尼德尔斯综合征患者的上气道。
Oral Maxillofac Surg. 2011 Jun;15(2):127-30. doi: 10.1007/s10006-010-0230-0.

本文引用的文献

1
Congenital malformations associated with maternal osteodysplasty. A new malformation complex.
Acta Radiol Diagn (Stockh). 1981;22(3B):369-77. doi: 10.1177/028418518102203b11.
2
Osteodysplasty (Melnick-Needles syndrome) in a male.一名男性的骨发育异常(梅尔尼克-尼德尔斯综合征)。
Prog Clin Biol Res. 1982;104:139-42.
3
X-linked or autosomal dominant, lethal in the male, inheritance of the Melnick-Needles (osteodysplasty) syndrome? A reappraisal.X连锁或常染色体显性遗传,男性致死,梅尼克-尼德尔斯(骨发育异常)综合征的遗传方式?重新评估。
Am J Med Genet. 1982 Dec;13(4):465-7. doi: 10.1002/ajmg.1320130417.
4
Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome).
Am J Med Genet. 1982 Dec;13(4):453-63. doi: 10.1002/ajmg.1320130416.
5
Melnick-Needles syndrome: osteodysplasty with kyphoscoliosis.
J Pediatr Orthop. 1983 Jul;3(3):387-91. doi: 10.1097/01241398-198307000-00022.
6
Biochemical abnormalities in connective tissue of osteodysplasty of Melnick-Needles and dyssegmental dwarfism.梅尼克-尼德尔斯骨发育异常和节段性侏儒症结缔组织中的生化异常。
Clin Genet. 1983 May;23(5):369-75.
7
The nature of the mandibular lesion in Melnick-Needles syndrome.梅尼克-尼德尔斯综合征下颌病变的性质。
Radiology. 1984 Mar;150(3):844-5. doi: 10.1148/radiology.150.3.6695089.
8
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.
9
Osteodysplasty (Melnick and Needles syndrome). Report of a case.骨发育异常(梅尔尼克和尼德尔斯综合征)。病例报告。
Ann Rheum Dis. 1968 Jul;27(4):360-6. doi: 10.1136/ard.27.4.360.
10
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.