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Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: a new autosomal dominant syndrome.
Am J Med Genet. 1984 May; 18(1):67-77.AJ

Abstract

We report on an autosomal dominant syndrome consisting of unique corneal epithelial changes, diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, premature birth, and dental problems. This condition has been present in seven persons in three generations of one family. Corneal biopsies demonstrate mild dysplastic changes in the epithelium. Skin biopsies show hyperkeratosis and acanthosis. In both eye and skin specimens, results of stains for polysaccharides, amyloid, and tyrosine were unremarkable. Roentgenograms of the hands show short distal phalanges, short 4th metacarpals, and constriction of the heads of some of the metacarpals. In three of four affected relatives, a variable medullary narrowness is seen. In mode of inheritance, clinical appearance, and/or associated defects. This syndrome appears to differ from previously reported conditions that include palmoplantar hyperkeratosis and/or corneal changes.

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Publisher Full Text

Authors

Stern JK
No affiliation info available
Lubinsky MS
No affiliation info available
Durrie DS
No affiliation info available
Luckasen JR
No affiliation info available

MeSH

AdultBody HeightChildCorneal DiseasesFemaleFingersGenes, DominantHumansInfant, NewbornInfant, PrematureKeratoderma, PalmoplantarMaleMiddle AgedNails, MalformedPaternal AgePedigreeSyndromeToesTooth Abnormalities

Pub Type(s)

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

Language

eng

PubMed ID

6234802

Citation

Stern, J K., et al. "Corneal Changes, Hyperkeratosis, Short Stature, Brachydactyly, and Premature Birth: a New Autosomal Dominant Syndrome." American Journal of Medical Genetics, vol. 18, no. 1, 1984, pp. 67-77.
Stern JK, Lubinsky MS, Durrie DS, et al. Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: a new autosomal dominant syndrome. Am J Med Genet. 1984;18(1):67-77.
Stern, J. K., Lubinsky, M. S., Durrie, D. S., & Luckasen, J. R. (1984). Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: a new autosomal dominant syndrome. American Journal of Medical Genetics, 18(1), 67-77.
Stern JK, et al. Corneal Changes, Hyperkeratosis, Short Stature, Brachydactyly, and Premature Birth: a New Autosomal Dominant Syndrome. Am J Med Genet. 1984;18(1):67-77. PubMed PMID: 6234802.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: a new autosomal dominant syndrome. AU - Stern,J K, AU - Lubinsky,M S, AU - Durrie,D S, AU - Luckasen,J R, PY - 1984/5/1/pubmed PY - 1984/5/1/medline PY - 1984/5/1/entrez SP - 67 EP - 77 JF - American journal of medical genetics JO - Am J Med Genet VL - 18 IS - 1 N2 - We report on an autosomal dominant syndrome consisting of unique corneal epithelial changes, diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, premature birth, and dental problems. This condition has been present in seven persons in three generations of one family. Corneal biopsies demonstrate mild dysplastic changes in the epithelium. Skin biopsies show hyperkeratosis and acanthosis. In both eye and skin specimens, results of stains for polysaccharides, amyloid, and tyrosine were unremarkable. Roentgenograms of the hands show short distal phalanges, short 4th metacarpals, and constriction of the heads of some of the metacarpals. In three of four affected relatives, a variable medullary narrowness is seen. In mode of inheritance, clinical appearance, and/or associated defects. This syndrome appears to differ from previously reported conditions that include palmoplantar hyperkeratosis and/or corneal changes. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6234802/Corneal_changes_hyperkeratosis_short_stature_brachydactyly_and_premature_birth:_a_new_autosomal_dominant_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1984&volume=18&issue=1&spage=67 DB - PRIME DP - Unbound Medicine ER -