Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?

Hall CM

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Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?

机译：喉狭窄性脊柱干a端发育异常（霍尔型）：新的诊断功能？

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The spondyloepimetaphyseal dysplasias (SEMD) are a large, genetically heterogeneous group of disorders of variable severity, which are classified according to their clinical and radiological features. SEMD with multiple dislocations (Hall type) has been recently delineated (MIM 603546). This condition is characterized by striking epiphyseal and metaphyseal changes in the long bones, joint laxity, multiple dislocations of the large joints including the knees, and dysmorphic features including a short and upturned nose with a depressed nasal bridge and midface hypoplasia. An autosomal dominant mode of inheritance has been suggested. We report a further patient with a mild form of this condition and persistent inspiratory stridor secondary to laryngeal stenosis. This complication has been reported in previous reports and is certainly an important diagnostic feature.

机译：脊柱肺干met端发育异常（SEMD）是一组严重程度不同的遗传异质性疾病，根据其临床和放射学特征对其进行分类。最近已描述了具有多个位错的SEMD（霍尔型）（MIM 603546）。这种情况的特征是长骨的骨phy和干meta端发生明显变化，关节松弛，包括膝盖在内的大关节的多种脱位以及畸形特征，包括鼻子短而上翘，鼻梁凹陷和中面发育不全。有人提出了常染色体显性遗传方式。我们报告了另一例轻度这种情况的患者，继发于喉部狭窄的持续吸气性喘鸣。这种并发症已经在以前的报告中报道过，并且无疑是重要的诊断功能。

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《Clinical dysmorphology》 |2004年第3期|共3页
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Hall CM;
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正文语种 eng
中图分类神经病学与精神病学;
关键词
Dysplasia; NOS; agreement; Hypoplastic; Long bone;

机译：不典型增生;NOS;同意;发育不良;长骨;

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专利

1. Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature? [J] . Hall CM Clinical dysmorphology . 2004,第3期

机译：喉狭窄性脊柱干a端发育异常（霍尔型）：新的诊断功能？
2. Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance. [J] . Park SM, Hall CM, Gray R, American journal of medical genetics, Part A . 2007,第17期

机译：持续性上呼吸道梗阻是多发性脱位（霍尔型）的脊椎干met端关节发育不良的诊断特征，并具有显性遗传的进一步证据。
3. Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review. [J] . Journal of pediatric orthopaedics. Part B . 2008,第6期

机译：关节松弛，瘦指肌型或霍尔型脊柱干met端发育异常：脸部正常的病例报道并文献复习。
4. Diagnosis of Laryngeal Dysplasia in Seven Horses Using Magnetic Resonance Imaging and Ultrasonography [C] . Katherine S. Garrett, J. Brett Woodie, Rolf M. Embertson, Annual Convention of the American Association of Equine Practitioners . 2009

机译：使用磁共振成像和超声检查诊断七匹马中的喉发育不良
5. New and established diagnostic methodology to assess severity of canine hip dysplasia. [D] . Lopez, Mandi Jean. 2001

机译：新的和已建立的诊断方法可以评估犬髋关节发育异常的严重程度。
6. Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance [O] . C Hall, N Elcioglu, K MacDermot, 2002

机译：伴多处脱位的脊椎干met端发育异常（霍尔型）：另外三例和常染色体显性遗传的证据
7. Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance [O] . Hall, C, Elcioglu, N, MacDermot, K, 2002

机译：伴多处脱位的脊椎干met端发育异常（霍尔型）：另外三例和常染色体显性遗传的证据

Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?

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