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Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome.
Am J Med Genet. 1998 Dec 04; 80(4):403-5.AJ

Abstract

We studied a patient with microcephaly, short stature, type B brachydactyly, nail dysplasia, skeletal anomalies, and mental retardation. The mother of the propositus has brachydactyly of thumbs and a similar physiognomy without mental retardation. This appears to be another observation of the Tonoki syndrome, a distinct autosomal dominant or X-linked clinical entity.

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Authors+Show Affiliations

Sorge G
Department of Pediatric Neurology, Clinica Pediatrica dell'Università di Catania, Italy. g.sorge@telmedia.it or sorge@mbox.unict.it
Baieli S
No affiliation info available
Mauceri L
No affiliation info available
Greco F
No affiliation info available
Fiumara A
No affiliation info available

MeSH

AdolescentFingersGrowth DisordersHumansIntellectual DisabilityMaleNails, MalformedSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9856572

Citation

Sorge, G, et al. "Short Stature, Brachydactyly, Nail Dysplasia, and Mental Retardation: Further Observation of the Tonoki Syndrome." American Journal of Medical Genetics, vol. 80, no. 4, 1998, pp. 403-5.
Sorge G, Baieli S, Mauceri L, et al. Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome. Am J Med Genet. 1998;80(4):403-5.
Sorge, G., Baieli, S., Mauceri, L., Greco, F., & Fiumara, A. (1998). Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome. American Journal of Medical Genetics, 80(4), 403-5.
Sorge G, et al. Short Stature, Brachydactyly, Nail Dysplasia, and Mental Retardation: Further Observation of the Tonoki Syndrome. Am J Med Genet. 1998 Dec 4;80(4):403-5. PubMed PMID: 9856572.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome. AU - Sorge,G, AU - Baieli,S, AU - Mauceri,L, AU - Greco,F, AU - Fiumara,A, PY - 1998/12/18/pubmed PY - 2000/6/20/medline PY - 1998/12/18/entrez SP - 403 EP - 5 JF - American journal of medical genetics JO - Am J Med Genet VL - 80 IS - 4 N2 - We studied a patient with microcephaly, short stature, type B brachydactyly, nail dysplasia, skeletal anomalies, and mental retardation. The mother of the propositus has brachydactyly of thumbs and a similar physiognomy without mental retardation. This appears to be another observation of the Tonoki syndrome, a distinct autosomal dominant or X-linked clinical entity. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/9856572/Short_stature_brachydactyly_nail_dysplasia_and_mental_retardation:_further_observation_of_the_Tonoki_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1998&volume=80&issue=4&spage=403 DB - PRIME DP - Unbound Medicine ER -