Publication: Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation
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Hoyer, J., Kraus, C., Hammersen, G., Geppert, J. P., & Rauch, A. (2009). Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. Clinical Genetics, 76, 276–281. https://doi.org/10.1111/j.1399-0004.2009.01204.x
Abstract
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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 wi
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- Hoyer, J
- Kraus, C
- Hammersen, G
- Geppert, J P
- Rauch, A
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Hoyer, J., Kraus, C., Hammersen, G., Geppert, J. P., & Rauch, A. (2009). Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. Clinical Genetics, 76, 276–281. https://doi.org/10.1111/j.1399-0004.2009.01204.x
