Abstract:
:We report a 6 month old boy with congenital hydronephrosis, cleft palate, severe hypotonia, congenital heart defect, developmental delay, and characteristic facial features with an open mouthed appearance and full lower lip, who we believe is the third reported case of Okamoto syndrome. Okamoto syndrome is a recently described distinctive multiple congenital anomaly syndrome encompassing the above features for which an etiologic factor has not yet been identified. Our patient also had idiopathic splenomegaly and non-specific MRI changes in the brain, not reported in the first two cases.
journal_name
Clin Dysmorpholjournal_title
Clinical dysmorphologyauthors
Wallerstein R,Shih LY,Fong MH,Zheng S,Poon Edoi
10.1097/00019605-200504000-00006subject
Has Abstractpub_date
2005-04-01 00:00:00pages
85-7issue
2eissn
0962-8827issn
1473-5717pii
00019605-200504000-00006journal_volume
14pub_type
杂志文章,评审abstract::We describe a patient whose features represent a new entity within the oculo-auriculo-vertebral spectrum. The boy had right microtia, atresia of the external auditory canal, growth retardation, a complex heart defect, and extra-lobar pulmonary sequestration. The cardiac anomalies were persistent left superior vena cav...
journal_title:Clinical dysmorphology
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abstract::A male infant is described with anterior segment dysgenesis and absent lens caused by amniotic bands. ...
journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:
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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
doi:10.1097/00019605-199807000-00004
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abstract::A baby with 'apple peel' jejunal atresia and limb abnormalities is described. The literature on 'apple peel' atresia is reviewed and the possible aetiology is discussed. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1995-01-01 00:00:00
abstract::Barth syndrome is an X-linked recessive condition caused by defective remodelling of cardiolipins in mitochondrial membranes because of mutations in the tafazzin (TAZ1/G4.5) gene located at Xq28. The cardinal features of Barth syndrome are cardiac and skeletal myopathy and neutropaenia, reported in the initial descrip...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e32832a9e62
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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
abstract::Here we report on a Brazilian female patient with the clinical manifestations of the holoprosencephaly-like phenotype who also presented with a retroocular granuloma diagnosed as Langerhans cell histiocytosis in early infancy. Mutation analysis showed a missense mutation (G316D) in the exon 2 of SIX3 gene, which was p...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e32834116ae
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journal_title:Clinical dysmorphology
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doi:10.1097/00019605-200510000-00004
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200107000-00005
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journal_title:Clinical dysmorphology
pub_type: 信件
doi:
更新日期:1999-07-01 00:00:00
abstract::Prader-Willi syndrome is a complex multisystem disorder characterized by neonatal hypotonia, developmental delay, short stature, obesity, behaviour problems, hypothalamic hypogonadism and characteristic appearance. A number of sex chromosome abnormalities have been reported in children with Prader-Willi syndrome. We r...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e32801472cf
更新日期:2007-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200404000-00003
更新日期:2004-04-01 00:00:00
abstract::A fetus was diagnosed on ultrasound scan as having sacral spina bifida and a ventricular septal defect in the heart. At postmortem examination the cardiac defect was found to be a conotruncal abnormality, and there was a cleft palate, some facial dysmorphism as well as the spina bifida. A diagnosis of Kousseff syndrom...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200204000-00007
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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: 杂志文章
doi:10.1097/MCD.0b013e32832a9e78
更新日期:2009-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200110000-00005
更新日期:2001-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200101000-00012
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200009030-00008
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0000000000000344
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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更新日期:2006-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200101000-00001
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1993-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1999-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1993-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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更新日期:1999-01-01 00:00:00
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journal_title:Clinical dysmorphology
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更新日期:2011-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 信件
doi:10.1097/00019605-200304000-00014
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