婴儿期骨骼成熟加速综合征、特殊面容及多发先天性异常。 - Suppr

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Syndrome of accelerated skeletal maturation in infancy, peculiar facies, and multiple congenital anomalies.

作者信息

Visveshwara N, Rudolph N, Dragutsky D

出版信息

J Pediatr. 1974 Apr;84(4):553-6. doi: 10.1016/s0022-3476(74)80677-3.

DOI:10.1016/s0022-3476(74)80677-3

PMID:4365364

Abstract

摘要

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Syndrome of accelerated skeletal maturation in infancy, peculiar facies, and multiple congenital anomalies.婴儿期骨骼成熟加速综合征、特殊面容及多发先天性异常。

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Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder.

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Difficult airway in a patient with Marshall-Smith syndrome.患有马歇尔-史密斯综合征患者的困难气道

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Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: a variant example of the Lenz-Majewski syndrome.具有早老样外观、特征性面部和肢体异常、多发关节强直及独特骨骼改变的骨骼发育异常综合征：Lenz-Majewski综合征的一个变异型病例

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Frontometaphyseal dysplasia.额骨干骺端发育不良

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Familial pachydermoperiostosis presenting as an acromegaly-like syndrome.表现为肢端肥大症样综合征的家族性厚皮性骨膜病。

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An autosomal recessive bone dysplasia syndrome resembling hypochondroplasia.一种类似于软骨发育不全的常染色体隐性骨发育不良综合征。

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Frontometaphyseal dysplasia with congenital urinary tract malformations.伴有先天性泌尿系统畸形的额骨干骺端发育不良

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引用本文的文献

Epiglottic aplasia in an infant with Joubert syndrome.婴儿型 Joubert 综合征伴会厌发育不全

BMJ Case Rep. 2020 Nov 9;13(11):e237143. doi: 10.1136/bcr-2020-237143.

Marshall-Smith syndrome: the expanding phenotype.马歇尔-史密斯综合征：不断扩展的表型。

J Med Genet. 1997 Oct;34(10):842-5. doi: 10.1136/jmg.34.10.842.

Long survival of a patient with Marshall-Smith syndrome without respiratory complications.一名患有马歇尔-史密斯综合征的患者长期存活且无呼吸并发症。

J Med Genet. 1993 Oct;30(10):877-9. doi: 10.1136/jmg.30.10.877.

The syndromes of Marshall and Weaver.马歇尔综合征和韦弗综合征

J Med Genet. 1980 Jun;17(3):174-8. doi: 10.1136/jmg.17.3.174.

The syndrome of accelerated bone maturation in the newborn infant with dysmorphism and congenital malformations. (The so-called Marshall-Smith syndrome).

Pediatr Radiol. 1976 Oct 26;5(1):53-7. doi: 10.1007/BF00988665.

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