A distinct variant of the Ehlers‐Danlos syndrome
Abstract
Two unrelated males presented a distinct syndrome, consisting mainly of mental retardation, short stature, wrinkled facies, curly and fine hair, scanty eyebrows and eyelashes, telecanthus, periodontitis, hypermobility of the joints, hyperextensibility and fragility of the skin, multiple nevi, papiraceous scars, bruisability, varicose veins, pectus excavatum, winged scapulae, pes planus and bilateral cryptorchidism. Since some features were typical of Ehlers‐Danlos Syndrome (EDS), the clinical data were analyzed comparatively with the different types of EDS. The individualization of a distinct variant is concluded. Increased paternal age at the birth of both cases suggests a de novo dominant mutation.
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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., 1979
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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
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
- Authors
- Hernández, A., Aguirre‐Negrete, M. G., Ramírez‐Soltero, S., González‐Mendoza, A., Martínez, R. M., Velázquez‐Cabrera, A., & Cantú, J. M.
- Affiliations
- Mexican Social Security Institute (MX)
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 1979-11
- Volume
- 16
- Issue
- 5
- Pages
- 335-339
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W1999517421
- Cited by
- 45
- References
- 0
- Citations by year
- 2022: 2 · 2021: 2 · 2020: 1 · 2019: 4 · 2018: 2 · 2017: 3 · 2016: 2 · 2014: 1 · 2013: 3 · 2012: 1
- FWCI
- 0.58
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Ford Foundation
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Keywords
- Ehlers-Danlos syndrome, intellectual disability, short stature, joint hypermobility, skin fragility, periodontitis, cryptorchidism, pectus excavatum, paternal age, multiple nevi, varicose veins, pes planus
- MeSH terms
- Adolescent, Ehlers-Danlos Syndrome, Genes, Dominant, Humans, Male, Intellectual Disability, Mutation, Paternal Age, Genetic Variation
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