Ehlers‐Danlos features with progeroid facies and mild mental retardation: Further delineation of the syndrome
Abstract
A syndrome characterized by progeroid facies, multiple nevi, mild mental retardation, skin hyperextensibility, bruisability, moderate skin fragility, joint hypermobility principally in digits, is described in two unrelated patients. Electron microscopy of the skin showed some fragmentation of the elastic fibers' fibrous portion and moderate electrodensity in the amorphous portion. Since a practically identical constellation of clinical features was previously reported in three patients, the individualization of a distinct connective tissue disorder, probably autosomal dominant, with variable expressivity is concluded.
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Hernandez et al. [1979, 1981, 1986] reported five patients with EDS-features and features of early aging, including wrinkled facies, significant growth failure, fine/curly hair, periodontitis, bilateral cryptorchidism, and apparent intellectual deficit.
“Hernandez et al. [1979Hernandez et al. [ , 1981Hernandez et al. [ , 1986] ] reported five patients with EDS-features and features of early aging, including wrinkled facies, significant growth failure, fine/curly hair, periodontitis, bilateral cryptorchidism, apparent intellectual deficit.”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Hernandez et al., 1986
Cites
Cupo, L. N., Pyeritz, R. E., Olson, J. L., McPhee, S. J., Hutchins, G. M., & McKusick, V. A. (1981) · The American Journal of Medicine · doi:10.1016/0002-9343(81)90341-7 · Cited by 106 · see citing works
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The Ehlers–Danlos syndromes, rare types
Brady, A. F., Demirdas, S., Fournel‐Gigleux, S., Ghali, N., Giunta, C., Kapferer‐Seebacher, I., Kosho, T., Mendoza‐Londono, R., Pope, M. F., Rohrbach, M., et al. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31550 · Cited by 249 · see citing works
Faiyaz‐Ul‐Haque, M., Zaidi, S. H. E., Al‐Ali, M., Al‐Mureikhi, M. S., Kennedy, S., Al‐Thani, G., Tsui, L., & Teebi, A. S. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30005 · Cited by 111 · see citing works
Ehlers–Danlos syndrome: A showcase of conditions that lead to understanding matrix biology
Byers, P. H., & Murray, M. L. (2014) · Matrix Biology · doi:10.1016/j.matbio.2013.07.005 · Cited by 68 · see citing works
Guo, M. H., Stoler, J., Lui, J., Nilsson, O., Bianchi, D. W., Hirschhorn, J. N., & Dauber, A. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36128 · Cited by 52 · see citing works
Reinstein, E., Pimentel, M., Pariani, M., Nemec, S., Sokol, T., & Rimoin, D. L. (2012) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2012.06.012 · Cited by 47 · see citing works
- Authors
- Hernández, A., Aguirre‐Negrete, M. G., González‐Flores, S., Reynoso‐Luna, M. C., Fragoso, R., Nazará, Z., AND, G. T., & Cantú, J. M.
- Affiliations
- Mexican Social Security Institute (MX)
- Corresponding author
- Hernández, Alejandro
- ORCID
- Nazará, Zamira
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 1986-12
- Volume
- 30
- Issue
- 6
- Pages
- 456-461
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W2013244567
- Cited by
- 38
- References
- 1
- Citations by year
- 2022: 2 · 2021: 2 · 2020: 1 · 2019: 4 · 2018: 2 · 2017: 3 · 2016: 2 · 2015: 1 · 2014: 1 · 2013: 4 · 2012: 2
- FWCI
- 0.49
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- Ehlers-Danlos syndrome, mild intellectual disability, skin hyperextensibility, joint hypermobility, elastic fiber fragmentation, connective tissue diseases, autosomal dominant inheritance, variable expressivity, multiple nevi, skin fragility
- MeSH terms
- Adolescent, Child, Connective Tissue, Ehlers-Danlos Syndrome, Humans, Male, Intellectual Disability, Microscopy, Electron, Progeria, Skin
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