Familial clustering of situs inversus totalis, and asplenia and polysplenia syndromes

Abstract

We report on a family in which a male infant had the asplenia syndrome, a younger brother had the polysplenia syndrome, and their father had situs inversus totalis. The occurrence of the asplenia and the polysplenia syndromes in a sibship of the present family and in two other previously reported sibships indicates that the two syndromes are causally and pathogenetically related to each other. If it is assumed that the father had an incomplete form of the polysplenia complex, then the condition in this family either is an autosomal dominant trait or is multifactorially determined.

Polyasplenia complex with mesocardia and renal agenesis in an infant of a diabetic mother

“…Errors in symmetry determination are good examples of this, with situs inversus and situs ambiguous being the best-known symmetry malformations [Opitz and Gilbert, 19821. Organ mirror-image (isomerism), and organ bilaterality as seen in polysplenia (bilateral left-sidedness) and asplenia (bilateral right-sidedness) have also been included as midline developmental field defects [Niikawa et al, 1983;Arnold et al, 19831.…”

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].…”

X‐linked laterality sequence in a family with carrier manifestations

“…Most cases are sporadic, but genetically caused cases including autosomal recessive, autosomal dominant, and X-linked recessive inheritance have been reported [Simpson and Zellweger, 1973;Hurwitz and Caskey, 1982;Arnold et al, 1983;Niikawa et al, 1983;Peoples et al, 1983;de la Monte and Hutchins, 1985;Opitz, 1985;Zlotogora et al, 1987;Rodriguez et al, 19911.…”