Discordant phenotype in monozygotic twins with Fryns syndrome

Citation
Je. Vargas et al., Discordant phenotype in monozygotic twins with Fryns syndrome, AM J MED G, 94(1), 2000, pp. 42-45
Citations number
16
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
94
Issue
1
Year of publication
2000
Pages
42 - 45
Database
ISI
SICI code
0148-7299(20000904)94:1<42:DPIMTW>2.0.ZU;2-9
Abstract
We report on a pair of monozygotic twins with Fryns syndrome discordant for severity of diaphragmatic defect, Both twins had macrocephaly, "coarse" fa cial appearance, hypoplasia of distal phalanges, and an extra pair of ribs. Twin A lacked an apparent diaphragmatic defect, and at 1 year of age had m ild developmental delay. Twin B had a left congenital diaphragmatic hernia and died neonatally. Absence of diaphragmatic defect in Fryns syndrome may represent a subpopulation of more mildly affected patients whose developmen tal outcome is currently undetermined. (C) 2000 Wiley-Liss, Inc.