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A SEX-LINKED RECESSIVE DISORDER WITH RETARDATION OF GROWTH, PECULIAR HAIR, AND FOCAL CEREBRAL AND CEREBELLAR DEGENERATION
Abstract
In two generations of the G. family, five males suffered from a cerebral degenerative disorder characterized by (1) peculiar stubby white hair with the microscopic picture of pili torti, monilethrix, and trichorrexis nodosa; (2) early and severe retardation; and (3) severe neurological impairment beginning within the first month or two of life and rapidly progressing to decerebration. A sex-linked recessive trait has been implicated. Postmortem examination in two cases revealed a widespread degeneration of the cerebral grey matter, secondary degeneration of the cerebral white matter, and a diffuse atrophy of the cerebellar cortex. Plasma amino acid chromatography showed consistently elevated glutamic acid. The significance of this finding is unknown. Other biochemical investigations were found to be within normal limits. The suggestion is offered that the condition described represents a new clinical syndrome due to an inherited error in metabolism.
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Citations
Cited by
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Metry, D., Heyer, G., Hess, C., Garzon, M., Haggstrom, A., Frommelt, P., Adams, D., Siegel, D., Hall, K., Powell, J., et al. (2009) · Pediatrics · doi:10.1542/peds.2009-0082 · Cited by 401
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Metadata
- Authors
- Menkes, J. H., Alter, M., Steigleder, G. K., Weakley, D. R., & Sung, J. H.
- Venue
- PEDIATRICS
- Publisher
- American Academy of Pediatrics
- Published
- 1962-05-01
- Volume
- 29
- Issue
- 5
- Pages
- 764-779
- ISSN
- 0031-4005 (ISSN-L)
- OpenAlex
- W2170057620
- Cited by
- 860
- References
- 0
- FWCI
- 1.39
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: A SEX-LINKED RECESSIVE DISORDER WITH RETARDATION OF GROWTH, PECULIAR HAIR, AND FOCAL CEREBRAL AND CEREBELLAR DEGENERATION. https://app.cochat.ai/papers/10.1542/peds.29.5.764
- The paper
- Menkes, J. H., Alter, M., Steigleder, G. K., Weakley, D. R., & Sung, J. H. (1962). A SEX-LINKED RECESSIVE DISORDER WITH RETARDATION OF GROWTH, PECULIAR HAIR, AND FOCAL CEREBRAL AND CEREBELLAR DEGENERATION. PEDIATRICS. https://doi.org/10.1542/peds.29.5.764
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
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.
