Abstract:
:Cutis laxa is characterised by redundant, inelastic skin with deep wrinkling and additional variable systemic involvement. Mutations in fibulin-4 (EFEMP2) and fibulin-5 (FBLN5) were described to be causative for autosomal recessive cutis laxa type 1 in a few families each. The female patient was born to healthy consanguineous parents. Pregnancy was remarkable for fetal overgrowth and oligohydramnios. The newborn girl showed extreme bradycardia and died perinatally. Apart from overgrowth, cutis laxa, arachnodactyly of hands and feet with contractures of the third to fifth finger, medial rotation of feet, spina bifida of the os sacrum, microcephaly and facial dysmorphism were noted. Autopsy showed collapsed lungs with hypoplastic diaphragm and signs of cervical soft tissue bleedings due to fragility of vessels. Histologic examination showed fragmentation of elastic fibres with formation of cystic cavities in the medial layer of the aorta and central lung vessels. Sequencing of the elastin, fibulin-4 and fibulin-5 genes revealed a homozygous missense mutation (p.Cys267Tyr) in the fibulin-4 gene in the patient. Our observation increases the number of cases with fibulin-4 mutations to three and extends the phenotypic spectrum of fibulin-4 mutations by microcephaly, overgrowth and arachnodactyly.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Hoyer J,Kraus C,Hammersen G,Geppert JP,Rauch Adoi
10.1111/j.1399-0004.2009.01204.xsubject
Has Abstractpub_date
2009-09-01 00:00:00pages
276-81issue
3eissn
0009-9163issn
1399-0004pii
CGE1204journal_volume
76pub_type
杂志文章abstract::Approximately one in three individuals will be affected by cancer in their lifetime in the United States, and some are at elevated risk because of family history. Although assessment of family history of cancer and cancer risk is the standard of care, the current health-care system appears unable to meet this need. Be...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2006.00728.x
更新日期:2007-01-01 00:00:00
abstract::Mutations in the surfactant protein (SP)-B gene are responsible for SP-B deficiency in congenital alveolar proteinosis (CAP) (Nogee et al. J Clin Invest 1994: 93: 1860-1883; Lin et al. Mol Genet Metab 1998: 64: 25-35; Klein et al. Pediatrics 1998: 132: 244-248; Ballard et al. Pediatrics 1995: 96: 1046-1052). The multi...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2000.570506.x
更新日期:2000-05-01 00:00:00
abstract::Lipoprotein(a) [Lp(a)] is an important genetic trait associated with cardiovascular disease. While Lp(a) levels have been demonstrated to be approximately twice as high in black adults and children compared with whites, this relationship has not been assessed in the elderly. During the 1987 recall of the Charleston He...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1993.tb03887.x
更新日期:1993-11-01 00:00:00
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journal_title:Clinical genetics
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更新日期:1987-08-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb02394.x
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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/cge.12421
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:2010-08-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1034/j.1399-0004.2000.580402.x
更新日期:2000-10-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13789
更新日期:2020-09-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1990.tb03387.x
更新日期:1990-01-01 00:00:00
abstract::The acrocephalosyndactylies (ACS) are a group of inherited disorders characterized by premature fusion of cranial sutures in association with abnormalities of the hands and feet. Based on their clinical features, different types of ACS have been described. We here report on a family with 9 individuals affected with AC...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1991.tb03095.x
更新日期:1991-10-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1989-06-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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pub_type: 杂志文章
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更新日期:2021-01-19 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12653
更新日期:2016-03-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1983.tb00076.x
更新日期:1983-10-01 00:00:00
abstract::Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease. HCM is a highly complex and heterogeneous disease regarding not only the number of associated mutations but also the severity of phenotype, symptom burden, and the risk of complications, such as heart failure and sudden death. The p...
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pub_type: 杂志文章,评审
doi:10.1111/cge.13027
更新日期:2018-01-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1997-05-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:2015-04-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:2011-03-01 00:00:00
abstract::Linkage analysis has been performed on a large South African family of British origin in which 39 persons in 6 generations had early onset Type I autosomal dominant retinitis pigmentosa (ADRP). Tight linkage was excluded between the disease and the D3S47 locus on chromosome 3. This finding is further evidence for gene...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1992.tb03406.x
更新日期:1992-06-01 00:00:00
abstract::Marfan syndrome is a clinically and allelic heterogeneous, heritable connective tissue disorder with infrequently reported neuromuscular features. This study is the first to delineate these symptoms in a non-selected population. Neuromuscular involvement was evaluated in 10 Marfan patients through a standardized quest...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2009.01197.x
更新日期:2009-07-01 00:00:00