Abstract:
:We report two sisters with growth failure, relative microcephaly, peculiar facies and apical dystrophy (brachydactyly type B). They had shortness and clinodactyly of the 5th fingers, aplasia or hypoplasia of the distal phalanges of 5th fingers, short medial phalanges of the 2nd and 5th fingers, hypoplasia or aplasia of distal phalanges of 2-5th toes, with tiny toenails, and aplasia or nails of 5th fingers and right 5th toe in the younger sister. Dysmorphic facial features included high forehead, sparse hair, blepharophimosis, telecanthus, epicanthic folds, a low nasal bridge, a broad nasal tip and micrognathia. Their ears were low-set and malformed. The older sister additionally had a high-pitched voice and eczema on the face and limbs. In the younger sister a cardiac defect was diagnosed--ventricular and atrial septal defect, patent ductus arteriosus. They had some clinical features of Coffin-Siris syndrome, but with a milder phenotype and much less severe mental handicap. Their clinical picture resembles more the brachymorphism-onychodysplasia-dysphalangism (BOD) syndrome.
journal_name
Clin Dysmorpholjournal_title
Clinical dysmorphologyauthors
Ounap K,Justus I,Lipping-Sitska Msubject
Has Abstractpub_date
1998-01-01 00:00:00pages
45-50issue
1eissn
0962-8827issn
1473-5717journal_volume
7pub_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: 杂志文章
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journal_title:Clinical dysmorphology
pub_type: 信件
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pub_type: 信件
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doi:10.1097/00019605-200104000-00007
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journal_title:Clinical dysmorphology
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doi:10.1097/00019605-200401000-00006
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journal_title:Clinical dysmorphology
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doi:10.1097/00019605-200507000-00003
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journal_title:Clinical dysmorphology
pub_type: 信件
doi:10.1097/00019605-200404000-00013
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journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
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更新日期:2002-07-01 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:2004-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e32834116ae
更新日期:2011-07-01 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
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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更新日期:2006-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1994-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1992-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1997-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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
doi:10.1097/MCD.0b013e32833edaa9
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doi:
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200501000-00006
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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更新日期:2008-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e3281e668fd
更新日期:2007-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200107000-00005
更新日期:2001-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200101000-00001
更新日期:2001-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000133499.91871.52
更新日期:2004-07-01 00:00:00
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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:10.1097/MCD.0b013e328274244f
更新日期:2008-01-01 00:00:00