Abstract:
:We present the case of a 3-year-old boy with post-natal growth failure, microcephaly, developmental delay, facial dysmorphism, an evolving pigmentary retinopathy, pituitary hypoplasia, micropenis, and growth hormone (GH) deficiency. He has a microcephalic osteodysplastic slender-bone disorder with disharmonic delayed osseous maturation, most closely resembling patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II). Intrauterine growth retardation, a universal finding in the MOPD II, was absent in our patient.
journal_name
Clin Dysmorpholjournal_title
Clinical dysmorphologyauthors
Maclean K,Ambler G,Flaherty M,Kozlowski K,Adès LCdoi
10.1097/00019605-200210000-00005subject
Has Abstractpub_date
2002-10-01 00:00:00pages
255-60issue
4eissn
0962-8827issn
1473-5717journal_volume
11pub_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
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journal_title:Clinical dysmorphology
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doi:
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0000000000000117
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abstract::The possibility of gene-teratogen interaction is suggested in a family formerly reported by Gardner et al. [(2001) Clin Dysmorphol 10:203-208] in which both concordance and discordance exist for congenital malformations in equally valproate-exposed siblings. ...
journal_title:Clinical dysmorphology
pub_type: 评论,信件
doi:10.1097/00019605-200207000-00019
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journal_title:Clinical dysmorphology
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doi:10.1097/00019605-200201000-00004
更新日期:2002-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0000000000000248
更新日期:2019-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0000000000000080
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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:
更新日期:1993-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 信件
doi:10.1097/00019605-200304000-00014
更新日期:2003-04-01 00:00:00
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e32833edaa9
更新日期:2011-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1994-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1997-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000198925.94082.ea
更新日期:2006-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1994-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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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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更新日期:2012-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 信件
doi:10.1097/00019605-200210000-00015
更新日期:2002-10-01 00:00:00
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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: 信件
doi:10.1097/00019605-200009020-00015
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000194406.85052.de
更新日期:2006-04-01 00:00:00
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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:10.1097/00019605-199804000-00005
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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/MCD.0b013e3281e668fd
更新日期:2007-10-01 00:00:00