Clefting, amniotic bands, and polydactyly: A distinct phenotype that supports an intrinsic mechanism for amniotic band sequence

Abstract

Amniotic band sequence (ABS) is a well‐described condition involving a variety of congenital anomalies in association with fibrous bands. However, many cases are associated with birth defects that are not readily explained by the mechanism of fibrous strings entangling body parts and causing disruption of the fetal structures. The most common of these is typical cleft lip and palate (CLP). Here we describe such a case, with typical ABS limb defects and constriction bands, along with CLP, supernumerary left nipple, polydactyly, and a skin papilla. This case is nearly identical to a child previously described by Guion‐Almieda and Richieri‐Costa [2000] and may, therefore, represent a previously unrecognized syndrome that overlaps with ABS. Furthermore it may be that cases with ABS‐like anomalies associated with CLP represent a different condition, possibly caused by mutations in the genes Disorganization, p63, or IRF6. © 2005 Wiley‐Liss, Inc.

Amniotic Constriction Band: A Multidisciplinary Assessment of Etiology and Clinical Presentation

“…Furthermore, p63 mutations are also known to be associated with limb anomalies. Therefore, the finding of cleft lip and/or cleft palate in a patient with amniotic constriction band-like anomalies may represent a previously unrecognized syndrome with a genetic basis 4 . The majority of cases of amniotic constriction band are sporadic; therefore, the recurrence risk for this condition seems to be negligible 34 in contrast to the risk associated with other inherited genetic disorders that can cause clinically similar anomalies with higher recurrence risk, such as EEC syndrome.…”

Amniotic band syndrome: a rare entity to be encountered

“…ABS etiopathogenesis is still unknown, but there are two main theories. [6][7][8][9] The widely accepted extrinsic model proposed by Torpin and Faulkner in 1966 explains defects genesis by rupture of the amnion in early pregnancy, with forming of amniotic bands and amniotic liquid loss, followed by extrusion of all or parts of the fetus into the chorionic cavity. Bands entrap the parts of the growing fetus and fetal limbs and other body parts become entangled and are subjected to compression.…”

An update on amniotic bands sequence

“…60 It has been proposed that limb anomalies in humans may be equivalent to those reported in Ds [61][62][63][64][65][66][67][68][69] although some characteristics observed in ABS are not part of the phenotype described. 33,70 Hypothesis of primary ectodermal failure in the early embryonic disc Hunter et al 33 proposed that the anomalies observed in LBWC were caused by a primary defect/ectodermal deficiency of the embryonic disc.…”