Short stature, brachydactyly, nail dysplasia, and mental retardation: Further observation of the Tonoki syndrome

Authors
Sorge, G Baieli, S Mauceri, L Greco, F Fiumara, A
Citation
G. Sorge et al., Short stature, brachydactyly, nail dysplasia, and mental retardation: Further observation of the Tonoki syndrome, AM J MED G, 80(4), 1998, pp. 403-405
Citations number
10
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
80
Issue
4
Year of publication
1998
Pages
403 - 405
Database
ISI
SICI code
0148-7299(199812)80:4<403:SSBNDA>2.0.ZU;2-7
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 witho ut mental retardation. This appears to be another observation of the Tonoki syndrome, a distinct autosomal dominant or X-linked clinical entity. Am. J . Med. Genet. 80:403-405, 1998. (C) 1998 Wiley-Liss, Inc.