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Familial occurrence of patent ductus arteriosus.

作者信息

Sletten L J, Pierpont M E

机构信息

Ray and Hattie Anderson Center for the Study of Hereditary Cardiac Disease, Department of Pediatrics, University of Minnesota, Minneapolis, USA.

出版信息

Am J Med Genet. 1995 May 22;57(1):27-30. doi: 10.1002/ajmg.1320570108.

DOI:10.1002/ajmg.1320570108
PMID:7645594
Abstract

We describe 7 relatives with patent ductus arteriosus (PDA) and a slightly unusual facial appearance with prominent midface with nose elongation and flattening of the nasal bridge, wide-set eyes, downturned palpebral fissures, mild ptosis, thickened lips, and apparently slightly low-set ears. Autosomal dominant inheritance is suggested in this family. Other families where affected members have PDA and a similar facial appearance and autosomal dominant inheritance were described previously by Char [1978: BD:OAS XIV (6B):303-305] and Temple [1992: Clin Dysmorphol 1:17-21].

摘要

相似文献

1
Familial occurrence of patent ductus arteriosus.
Am J Med Genet. 1995 May 22;57(1):27-30. doi: 10.1002/ajmg.1320570108.
2
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3
Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies).查尔综合征（口部异常、动脉导管未闭、指骨异常）。
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A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics.一项关于涉及TFAP2B基因的家族性查尔综合征的研究，重点关注面部形状特征。
Clin Dysmorphol. 2018 Jul;27(3):71-77. doi: 10.1097/MCD.0000000000000222.
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Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.TFAP2B基因的突变会导致查尔综合征，这是一种动脉导管未闭的家族性形式。
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Familial persistent ductus arteriosus.
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