Diaphragmatic hernia and limb abnormalities syndrome (Froster syndrome).

摘要

introduction Diaphragmatic hernia (DH) is in most cases a multi-factorial condition with a reported incidence of 1:3000 live births (Kitano, 2007), and a higher incidence when ascertained from ultrasound scan findings in pregnancy. Most reported cases of DH have been isolated and with multifactorial mode of inheritance but some have been reported in association with chromosomal abnormalities in addition to a variety of single gene disorders (Kunze et al., 1979; Gzeizel and Losonci, 1987; Gershoni-Baruch et al., 1990; Lerone et al., 1992; Evans et al., 1994; Bozner et al., 1995; Holmes et al., 1995; Marino et al., 2002; Uygur et al., 2004; Alessandri et al., 2005).