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Cerebro-costo-mandibular syndrome. A case report and review of the literature.

作者信息

Tachibana K, Yamamoto Y, Osaki E, Kuroki Y

出版信息

Hum Genet. 1980;54(2):283-6. doi: 10.1007/BF00278987.

DOI:10.1007/BF00278987
PMID:7390499
Abstract

A 7-month-old boy with the cerebro-costo-mandibular syndrome is presented. This is the first case report in an Oriental population. 15 reported cases in the literature are reviewed.

摘要

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Cerebro-costo-mandibular syndrome. A case report and review of the literature.
Hum Genet. 1980;54(2):283-6. doi: 10.1007/BF00278987.
2
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引用本文的文献

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Local modulation of the Wnt/β-catenin and bone morphogenic protein (BMP) pathways recapitulates rib defects analogous to cerebro-costo-mandibular syndrome.局部调节 Wnt/β-连环蛋白和骨形态发生蛋白 (BMP) 通路可再现类似于脑-肋-颌综合征的肋骨缺陷。
J Anat. 2020 May;236(5):931-945. doi: 10.1111/joa.13144. Epub 2019 Dec 29.
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Cerebro-costo-mandibular syndrome with consanguinity.近亲结婚相关的脑-肋-下颌综合征
Pediatr Radiol. 1985;15(4):264-6. doi: 10.1007/BF02388772.

本文引用的文献

1
Rib-gap defect with micrognathia, malformed tracheal cartilages, and redundant skin: a new pattern of defective development.伴有小颌畸形、气管软骨发育不良及皮肤冗余的肋骨间隙缺损：一种新的发育缺陷模式。
J Pediatr. 1966 Nov;69(5):799-803. doi: 10.1016/s0022-3476(66)80127-0.
2
Cerebro-costo-mandibular syndrome. A new familial developmental disorder.脑-肋-下颌综合征。一种新的家族性发育障碍。
Arch Dis Child. 1970 Jun;45(241):421-4. doi: 10.1136/adc.45.241.421.
3
The skeletal defects of the cerebro-costo-mandibular syndrome.脑-肋-下颌综合征的骨骼缺陷
Ir J Med Sci. 1969 Dec;8(12):595-603. doi: 10.1007/BF02955472.
4
Rib gap defects with micrognathia. The cerebro-costo-mandibular syndrome--a Pierre Robin-like syndrome with rib dysplasia.
Am J Roentgenol Radium Ther Nucl Med. 1972 Feb;114(2):253-6. doi: 10.2214/ajr.114.2.253.
5
The cerebrocostomandibular syndrome.脑-肋-下颌综合征
Birth Defects Orig Artic Ser. 1974;10(7):167-70.
6
Cerebro-costo-mandibular syndrome: a case with cardiac anomaly.脑-肋-下颌综合征：一例合并心脏异常的病例。
J Pediatr. 1975 Feb;86(2):243-4. doi: 10.1016/s0022-3476(75)80479-3.
7
The course of the cerebrocostomandibular syndrome.脑-肋-下颌综合征的病程
Birth Defects Orig Artic Ser. 1977;13(3C):117-30.
8
[Cerebro-costo-mandibular syndrome. Three new cases (author's transl)].[脑-肋-下颌综合征。三例新病例（作者译）]
Nouv Presse Med. 1978 Feb 11;7(6):445-8.
9
Cerebro-costo-mandibular syndrome: long term follow-up of a patient and review of the literature.脑-肋-下颌综合征：1例患者的长期随访及文献复习
AJR Am J Roentgenol. 1976 Jun;126(6):1223-8. doi: 10.2214/ajr.126.6.1223.