SEVERE LIMB ABNORMALITIES - NIEVERGELT OR NEW SYNDROME

Citation
M. Vasil et al., SEVERE LIMB ABNORMALITIES - NIEVERGELT OR NEW SYNDROME, American journal of medical genetics, 70(1), 1997, pp. 48-51
Citations number
10
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
70
Issue
1
Year of publication
1997
Pages
48 - 51
Database
ISI
SICI code
0148-7299(1997)70:1<48:SLA-NO>2.0.ZU;2-K
Abstract
Since the characteristic mesomelic limb abnormalities of the autosomal -dominant Nievergelt syndrome (NS) may be casually nonspecific, we are unsure whether our patient with these abnormalities but also with sev ere, symmetrical hand and foot anomalies has an unusual form of Niever gelt syndrome or a previously apparently undescribed syndrome, This in fant's condition could represent an autosomal-dominant new mutation, o r an autosomal or X-linked recessive disorder. (C) 1997 Wiley-Liss, In c.