POSSIBLE NEW AUTOSOMAL RECESSIVE SYNDROME OF LYMPHEDEMA, HYDROCELES, ATRIAL SEPTAL-DEFECT, AND CHARACTERISTIC FACIAL CHANGES

Authors
IRONS MB BIANCHI DW GEGGEL RL MARX GR BHAN I
Citation
Mb. Irons et al., POSSIBLE NEW AUTOSOMAL RECESSIVE SYNDROME OF LYMPHEDEMA, HYDROCELES, ATRIAL SEPTAL-DEFECT, AND CHARACTERISTIC FACIAL CHANGES, American journal of medical genetics, 66(1), 1996, pp. 69-71
Citations number
14
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
66
Issue
1
Year of publication
1996
Pages
69 - 71
Database
ISI
SICI code
0148-7299(1996)66:1<69:PNARSO>2.0.ZU;2-G
Abstract
We describe two brothers with congenital lymphedema of lower limbs, at rial septal defect (ASD), and similar facial appearance. A sister had severe hydrops fetalis, ASD, omphalocele, and other anomalies. This co mbination of congenital lymphedema and ASD differs from other reported cases of congenital lymphedema and most likely constitutes a previous ly unrecognized autosomal recessive syndrome. (C) 1996 Wiley-Liss, Inc .