Clinical Variability in Neonatal Progeroid Syndrome
Resource
AMERICAN JOURNAL OF MEDICAL GENETICS v.58 n.2 pp.195-196
Journal
AMERICAN JOURNAL OF MEDICAL GENETICS
Journal Volume
v.58
Journal Issue
n.2
Pages
195-196
Date Issued
1995
Date
1995
Author(s)
HOU, JIA-WOEI
WANG, TSO-REN
Abstract
The neonatal progeroid syndrome (NPS) was characterized by Wiedemann. NPS differs from the well-known Hutchinson- Gilford progeria, which is not apparent at birth. We report on a Chinese infant girl with a progeroid appearance, multiple anomalies, and severe growth retardation since birth. Thus, our patient has the phenotype of Wiedemann- Reutenstrauch syndrome without intrauterine growth retardation (IUGR ), but with laryngomalacia, camptodactyly, and recurrent skin infection. Our patient brings further evidence of autosomal-recessive inheritance and suggests clinical variability.#1914#
Type
journal article