PROGEROID SYNDROME WITH CHARACTERISTIC FACIAL APPEARANCE AND HAND ANOMALIES IN FATHER AND SON

Authors
GIANNOTTI A DIGILIO MC MINGARELLI R MARINO B DALLAPICCOLA B
Citation
A. Giannotti et al., PROGEROID SYNDROME WITH CHARACTERISTIC FACIAL APPEARANCE AND HAND ANOMALIES IN FATHER AND SON, American journal of medical genetics, 73(2), 1997, pp. 227-229
Citations number
5
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
73
Issue
2
Year of publication
1997
Pages
227 - 229
Database
ISI
SICI code
0148-7299(1997)73:2<227:PSWCFA>2.0.ZU;2-O
Abstract
We report on the father-to-son transmission of a progeroid syndrome ch aracterized by facial anomalies, sparse subcutaneous fat, and hand ano malies including syndactyly, camptodactyly, and finger deviation, Mild mental retardation, microcephaly, and congenital heart defect were fo und only in the son. To our knowledge, this syndrome has not been desc ribed previously. (C) 1997 Wiley-Liss, Inc.