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A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia.
Am J Med Genet. 1984 Mar; 17(3):585-94.AJ

Abstract

We describe two brothers with severe microcephaly, unusual retinal pigmentary anomalies, intellectual function in the average or low average range, and a strong family history of hyperreflexia. The brothers have a previously undescribed syndrome, while the hyperreflexia appears to represent a coincidental autosomal dominant Mendelian trait, perhaps linked to the Kell blood group system.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

6711609

Citation

Parke, J T., et al. "A Syndrome of Microcephaly and Retinal Pigmentary Abnormalities Without Mental Retardation in a Family With Coincidental Autosomal Dominant Hyperreflexia." American Journal of Medical Genetics, vol. 17, no. 3, 1984, pp. 585-94.
Parke JT, Riccardi VM, Lewis RA, et al. A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia. Am J Med Genet. 1984;17(3):585-94.
Parke, J. T., Riccardi, V. M., Lewis, R. A., & Ferrell, R. E. (1984). A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia. American Journal of Medical Genetics, 17(3), 585-94.
Parke JT, et al. A Syndrome of Microcephaly and Retinal Pigmentary Abnormalities Without Mental Retardation in a Family With Coincidental Autosomal Dominant Hyperreflexia. Am J Med Genet. 1984;17(3):585-94. PubMed PMID: 6711609.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia. AU - Parke,J T, AU - Riccardi,V M, AU - Lewis,R A, AU - Ferrell,R E, PY - 1984/3/1/pubmed PY - 1984/3/1/medline PY - 1984/3/1/entrez SP - 585 EP - 94 JF - American journal of medical genetics JO - Am J Med Genet VL - 17 IS - 3 N2 - We describe two brothers with severe microcephaly, unusual retinal pigmentary anomalies, intellectual function in the average or low average range, and a strong family history of hyperreflexia. The brothers have a previously undescribed syndrome, while the hyperreflexia appears to represent a coincidental autosomal dominant Mendelian trait, perhaps linked to the Kell blood group system. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6711609/A_syndrome_of_microcephaly_and_retinal_pigmentary_abnormalities_without_mental_retardation_in_a_family_with_coincidental_autosomal_dominant_hyperreflexia_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1984&volume=17&issue=3&spage=585 DB - PRIME DP - Unbound Medicine ER -