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A SYNDROME OF INFANTILISM, CONGENITAL WEBBED NECK, AND CUBITUS VALGUS1
Abstract
The triad, infantilism, webbing of the skin of the neck, and deformity of the elbow (cubitus valgus), occurring in the same individual is unusual, and, to my knowledge, has not been previously reported. It is sufficiently interesting to warrant this report, although the individual signs are perhaps not uncommon. Short neck, due to absence of the cervical spine, was first described by Klippel and Feil (1) in 1912. Only about 40 such cases have been reported to date, and these mostly in the French and German literature. A similar condition (pseudo-Klippel-Feil syndrome) (2) has been reported, in which there was a numerical variation in, and more or less complete fusion of, the cervical vertebrae. Webbing of the neck was first described by Kobylinski (3) in 1882, and its relation to congenital short neck was suggested by Darchter (4) in 1922.
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Cited by
Gravholt, C. H., Andersen, N. H., Conway, G. S., Dekkers, O. M., Geffner, M. E., Klein, K. O., Lin, A. E., Mauras, N., Quigley, C. A., Rubin, K., et al. (2017) · European Journal of Endocrinology · doi:10.1530/eje-17-0430 · Cited by 1,101
Care of girls and women with Turner syndrome: a guideline of the Turner syndrome study group
Bondy, C. A. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-1374 · Cited by 1,005
Rao, E., Weiss, B., Fukami, M., Rump, A., Niesler, B., Mertz, A., Muroya, K., Binder, G., Kirsch, S., Winkelmann, M., et al. (1997) · Nature Genetics · doi:10.1038/ng0597-54 · Cited by 943
Gravholt, C. H., Juul, S., Naeraa, R. W., & Hansen, J. (1998) · Journal of Clinical Epidemiology · doi:10.1016/s0895-4356(97)00237-0 · Cited by 548
Hypertelorism With Turner Phenotype: A New Syndrome With Associated Congenital Heart Disease
Noonan, J. A. (1968) · American Journal of Diseases of Children · doi:10.1001/archpedi.1968.02100020377005 · Cited by 549
Metadata
- Authors
- TURNER, H. H.
- Venue
- Endocrinology
- Publisher
- The Endocrine Society
- Published
- 1938-11
- Volume
- 23
- Issue
- 5
- Pages
- 566-574
- ISSN
- 0013-7227 (ISSN-L)
- 1945-7170
- OpenAlex
- W2108373584
- Cited by
- 1,127
- References
- 0
- FWCI
- 12.17
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: A SYNDROME OF INFANTILISM, CONGENITAL WEBBED NECK, AND CUBITUS VALGUS1. https://app.cochat.ai/papers/10.1210/endo-23-5-566
- The paper
- TURNER, H. H. (1938). A SYNDROME OF INFANTILISM, CONGENITAL WEBBED NECK, AND CUBITUS VALGUS1. Endocrinology. https://doi.org/10.1210/endo-23-5-566
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
