Abstract:
:The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and joint contractures. We report on a male patient with the clinical features of the syndrome. In addition, he had a Dandy-Walker malformation with hydrocephalus and vertebral abnormalities. During pregnancy, there were feeble fetal movements and polyhydramnios. We propose that Marden-Walker syndrome is one of the etiologic possibilities in children with the heterogeneous fetal a(hypo)kinesia deformation sequence (FADS). Differential diagnosis is discussed. The etiology is probably heterogeneous.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Schrander-Stumpel C,de Die-Smulders C,de Krom M,Schyns-Fleuran S,Hamel B,Jaeken D,Fryns JPdoi
10.1111/j.1399-0004.1993.tb03823.xsubject
Has Abstractpub_date
1993-06-01 00:00:00pages
303-8issue
6eissn
0009-9163issn
1399-0004journal_volume
43pub_type
杂志文章,评审abstract::Approximately one in 500 individuals in Western population has autosomal dominant familial hypercholesterolemia due to mutations in the low-density lipoprotein receptor (LDLR) gene. Screening for these mutations is hampered by their large number, except in founder populations. We identified the breakpoint of the >15 k...
journal_title:Clinical genetics
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journal_title:Clinical genetics
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doi:10.1111/j.1399-0004.2005.00512.x
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pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.1995.tb04305.x
更新日期:1995-05-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb01819.x
更新日期:1981-08-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12089
更新日期:2014-01-01 00:00:00
abstract::In situ hybridization was used to characterize an undetected chromosome translocation in a child whose metaphase chromosome analysis in peripheral blood and in skin culture revealed apparent monosomy 21. The cytogenetic study revealed 45 chromosomes, and no other structural anomalies were detected with G banding. In s...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1993.tb04457.x
更新日期:1993-02-01 00:00:00
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journal_title:Clinical genetics
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doi:10.1111/j.1399-0004.1997.tb02446.x
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journal_title:Clinical genetics
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doi:10.1111/j.1399-0004.1977.tb01296.x
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2002.620109.x
更新日期:2002-07-01 00:00:00
abstract::Few studies have investigated the frequency of hereditary non-polyposis colorectal cancer (HNPCC) in patients with colorectal cancer (CRC), and these have shown marked geographic variations. The aim of this study was to estimate the frequency of HNPCC in a cohort of Uruguayan CRC patients. We included all patients ope...
journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:
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abstract:BACKGROUND:In addition to whole exomes, large gene panels of clinically associated genes are used as high-throughput sequencing tests in many clinical centers, but their clinical utility has been much less investigated. MATERIALS AND METHODS:Here we report the results of the 501 first unselected cases for whom TruSigh...
journal_title:Clinical genetics
pub_type: 杂志文章
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1993.tb03889.x
更新日期:1993-11-01 00:00:00
abstract::Peptidase A (Pep A) activity assigned to chromosome 18q23 was biochemically examined in fibroblasts cultured from two patients with trisomy 18 and in fibroblasts derived from normal individuals. The trisomy 18 fibroblasts showed approximately a 1.5-fold increase in Pep A activity over that of the control fibroblasts. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1988.tb02856.x
更新日期:1988-09-01 00:00:00
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doi:10.1111/cge.13619
更新日期:2019-12-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1986.tb01261.x
更新日期:1986-04-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
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更新日期:2020-06-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13677
更新日期:2020-04-01 00:00:00