title: Disorganisation: a model for 'early amnion rupture'?
abstract: The hypothesis of an intrinsic defect of germ plasma put forward by Streeter to explain the abnormalities observed in 'amniotic bands sequence' (ABS) was not supported by Torpin, who suggested that the bands derived from early amnion rupture, with formation of mesodermal strings and naked chorion, which then constricted or adhered to fetal parts. Recently, several authors have recorded and discussed possible mechanisms for 'non-band related' malformations in patients with otherwise typical limb constrictions and amputations. The mouse mutant disorganisation (Ds) is a semidominant with 72% of heterozygotes manifesting abnormalities, which include cranioschisis, limb duplications and deficiencies, gastro/thoracoschisis, and papillae protruding from other parts of the body. We report similar abnormalities including papillae in five fetuses and one newborn with ABS and, based on these observations and published reports, we suggest that a human homologue for Ds may be the cause of at least some examples of ABS.
authors.affiliation: Regional Genetic Centre, St Mary's Hospital, Manchester.
authors.forename: D
authors.initials: D
authors.lastname: Donnai
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000650:Amnion; D000652:Amniotic Band Syndrome / Q000209:etiology; D000818:Animals; D005260:Female; D005796:Genes; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains; D012422:Rupture, Spontaneous