Ivemark syndrome in siblings

Abstract

A family in which two brothers have the lemurs syndrome is reported, thus bringing to eight the total number of families reported with multiple affected siblings. Study of 4059 autopsies, performed over 21 years at a major pediatric referral hospital, identified 32 cases of Ivemark syndrome. All were isolated occurrences in the families. One of six families which provided complete pedigree information was found to be consanguineous. This brings to four the number of reported consanguineous families with Ivemark syndrome. The male excess of affected with Ivemark syndrome is found both for the families with multiple affected siblings and for autopsy‐identified cases. These data suggest a recessive inheritance of Ivemark syndrome with male predisposition.

Shells and heart: Are human laterality and chirality of snails controlled by the same maternal genes?

“…Nevertheless, the proportion of patients with heterotaxy and a detected mutation in genes of the Nodal cascade is actually low, 13.3% among sporadic cases and 18% among sporadic and familial cases [Zlotogora and Elian, 1981;Hurwitz and Caskey, 1982;Niikawa et al, 1983;Devriendt et al, 1994;Ferrero et al, 1997;Bamford et al, 2000;Lin et al, 2000; partly reviewed in Ehlers and Engle, 1996]. So far, the relative contributions to the risk of recurrence for specific cardiac defects by sib recurrence versus parental segregation were difficult to decouple even in large scale, very detailed studies [e.g., Øyen et al, 2009].…”

Double outlet right ventricle, total anomalous venous return, total anomalous hepatic venous drainage and supra mitral ring in a child with Ivemark`s syndrome

“…Ivemark's syndrome is a rare congenital anomaly which is inherited in an autosomal recessive fashion and is estimated to occur in 1 in 10,000 to 40,000 live births [1,2]. Ivemark's syndrome consists of situs ambiguus with intrathoracic and abdominal visceral heterotaxy.…”