The DOI matches its Crossref record.
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part I: Clinical, causal, and pathogenetic considerations
Abstract
We report on six infants with a neonatally lethal malformation syndrome of hypothalamic hamartoblastoma, postaxial polydactyly, and imperforate anus. Some, but not all, patients had laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula, hypoadrenalism, microphallus, congential heart defect, and intrauterine growth retardation. The infants also had hypopituitarism and hypoadrenalism. All were sporadic cases, parents were not consanguineous, chromosomes were apparently normal. Family histories were unremarkable. There was insecticide and/or herbicide exposure in several of the cases, but no exposures were common to all 6 mothers. Five of the patients were born within an 8‐month period, but all in different geographic locations. It is postulated that this is a previously apparently unreported syndrome of presently unknown cause.
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Cited by
Ishimoto, H., & Jaffe, R. B. (2011) · Endocrine Reviews · doi:10.1210/er.2010-0001 · Cited by 379
Shadows of complexity: what biological networks reveal about epistasis and pleiotropy
Tyler, A. L., Asselbergs, F. W., Williams, S. M., & Moore, J. H. (2009) · BioEssays · doi:10.1002/bies.200800022 · Cited by 185
Metadata
- Authors
- Hall, J. G., Pallister, P. D., Clarren, S. K., Beckwith, J. B., Wiglesworth, F. W., Fraser, F. C., Cho, S., Benke, P. J., Reed, S. D., & Optiz, J. M.
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1980-01
- Volume
- 7
- Issue
- 1
- Pages
- 47-74
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W1965895014
- Cited by
- 348
- References
- 0
- FWCI
- 3.01
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part I: Clinical, causal, and pathogenetic considerations. https://app.cochat.ai/papers/10.1002/ajmg.1320070110
- The paper
- Hall, J. G., Pallister, P. D., Clarren, S. K., Beckwith, J. B., Wiglesworth, F. W., Fraser, F. C., Cho, S., Benke, P. J., Reed, S. D., & Optiz, J. M. (1980). Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part I: Clinical, causal, and pathogenetic considerations. American Journal of Medical Genetics. https://doi.org/10.1002/ajmg.1320070110
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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.
