Primary midline developmental field. II. Clinical/epidemiological analysis of alteration of laterality (normal body symmetry and asymmetry)

Abstract

Lubinsky [Am J Med Genet 3:23-28, 1987] has suggested that the properties of the midline involve early determinative informational processes and are related to the midline's position and definition of the body's plane of symmetry. Opitz [Am J Med Genet 21:175-176, 1985, BD: OAS XXIX(1):3-37 1993] has pointed out that the laterality sequences represent a midline developmental field complex. Thus, bilateral left-sidedness (with asplenia) and bilateral right-sidedness (with asplenia) have been considered laterality sequences or syndromes if cause is known. Using the malformed infants registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC), we performed a clinical/epidemiological analysis of the relationship between midline defects and alteration of normal body asymmetry and symmetry. The results support the assumption that both conditions could be consequence of disturbances in the midline primary developmental field.

Patterning the heart's left-right axis: From zebrafish to man

“…tion defects [Martinez-Frias et al, 1995]. An association between an X-linked heterotaxia and certain midline malformations of the brain, sacrum, and anus also has been reported [Casey et al, 1993;Ferrero et al, 1997].…”

Are blastogenetic anomalies sporadic?

“…As described previously [Martínez-Frías, 1995;Martínez-Frías et al, 1995], the ECEMC data base is structured using a relational data base that can be expanded by adding information through a table related to the existing ones by any of their fields. Using this capability, we have established a table including 171 codes for blastogenetic defects.…”

Defects in the determination of left-right asymmetry.

“…Left isomerism sequence is usually accompanied by the presence of multiple (more than six) uniformly sized spleens or spleniculi but patients with smaller numbers of non-uniform spleens are also found.20 Unlike asplenia, polysplenia is found just as frequently without isomerism, either with a normal heart or an isolated heart lesion. 22 The association of polysplenia with biliary atresia, absent gall bladder, and intestinal malrotation is well recognised.2324 Martinez-Frias et a122 also found positive associations between polysplenia and diaphragmatic hernia, cleft lip, hemivertebrae, and agenesis of the corpus callosum.…”