Abstract:
:The objective of our study was to use an established cohort of boys to investigate common patterns of malformations in those with hypospadias. We performed a retrospective review of the phenotype of participants in the Deciphering Developmental Disorders Study with neurodevelopmental delay and an 'Abnormality of the genital system'. This group was divided into two subgroups: those with hypospadias and without hypospadias. Associated phenotypes of the two subgroups were compared and analysed. Of the 166 Deciphering Developmental Disorders participants with hypospadias and neurodevelopmental delay, 47 (28%) had cardiovascular and 40 (24%) had structural brain abnormalities. The rate of cardiovascular abnormalities in those with neurodevelopmental delay and genital abnormalities other than hypospadias (N = 645) was lower at 19% (P = 0.001). In addition, structural brain malformations were higher at 24% in the hypospadias group versus 15% in the group without hypospadias (P = 0.002). The constellation of these features occured at a higher rate in the hypospadias group versus the no hypospadias group (P = 0.038). In summary, this is the first study to indicate that cardiovascular and brain abnormalities are frequently encountered in association with hypospadias in children with neurodevelopmental disorders. Not only do these associations provide insight into the underlying aetiology but also they highlight the multisystem involvement in conditions with hypospadias.
journal_name
Clin Dysmorpholjournal_title
Clinical dysmorphologyauthors
Gazdagh GE,Wang C,McGowan R,Tobias ES,Ahmed SF,DDD Study.doi
10.1097/MCD.0000000000000275subject
Has Abstractpub_date
2019-07-01 00:00:00pages
114-119issue
3eissn
0962-8827issn
1473-5717journal_volume
28pub_type
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
pub_type: 信件
doi:
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journal_title:Clinical dysmorphology
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doi:10.1097/00019605-200404000-00003
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journal_title:Clinical dysmorphology
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doi:10.1097/00019605-199707000-00003
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journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:
更新日期:1994-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:10.1097/01.mcd.0000198932.09330.33
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:10.1097/MCD.0b013e328323a7dd
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e32833d015c
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e328317a716
更新日期:2009-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1992-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:10.1097/00019605-200310000-00005
更新日期:2003-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200507000-00003
更新日期:2005-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-199710000-00004
更新日期:1997-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200104000-00007
更新日期:2001-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 信件
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0000000000000099
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200009020-00005
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journal_title:Clinical dysmorphology
pub_type: 评论,信件
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000220612.63025.4b
更新日期:2006-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000228426.97284.ff
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journal_title:Clinical dysmorphology
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更新日期:2012-01-01 00:00:00