title: Comparative study of clinical characteristics of amniotic rupture sequence with and without body wall defect: further evidence for separation.
abstract: BACKGROUND
  Amniotic rupture sequence (ARS) is a disruption sequence presenting with fibrous bands, possibly emerging as a result of amniotic tear in the first trimester of gestation. Our comparative study aims to assess whether there is a difference in the clinical pattern of congenital limb and internal organ anomalies between ARS with body wall defect (ARS-BWD) and ARS without BWD (ARS-L).
  
  
  METHODS
  Among 1,706,639 births recorded between 1998 and 2006, 50 infants with a diagnosis of ARS were reported to the Polish Registry of Congenital Malformations. The information on 3 infants was incomplete, thus only 47 cases were analyzed. These infants were classified into groups of ARS-L (38 infants) and ARS-BWD (9 infants).
  
  
  RESULTS
  The ARS-BWD cases were more frequently affected by various congenital defects (overall p < 0.0001), and in particular by urogenital malformations (p = 0.003). In both groups, limb reduction defects occurred in approximately 80% of cases; however, minor and distal limb defects (phalangeal or digital amputation, pseudosyndactyly, constriction rings) predominated in the ARS-L group (p = 0.0008). The ARS-L group also had a higher frequency of hand and upper limb involvement.
  
  
  CONCLUSIONS
  This observation suggests that amniotic band adhesion in ARS-L takes place at a later development stage. Although limited by a small sample size, our study contributes to the growing evidence that both ARS entities represent two nosologically distinct conditions.
authors.affiliation: Center for Medical Genetics, Department of Medical Genetics, University of Medical Sciences in Poznań, ul. Grunwaldzka 55, Poznań, Poland. jamsheer@wp.pl
authors.forename: Aleksander
authors.initials: A
authors.lastname: Jamsheer
authors.forename: Anna
authors.initials: A
authors.lastname: Materna-Kiryluk
authors.forename: Magdalena
authors.initials: M
authors.lastname: Badura-Stronka
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Wiśniewska
authors.forename: Barbara
authors.initials: B
authors.lastname: Wieckowska
authors.forename: Jan
authors.initials: J
authors.lastname: Mejnartowicz
authors.forename: Anna
authors.initials: A
authors.lastname: Balcar-Boroń
authors.forename: Maria
authors.initials: M
authors.lastname: Borszewska-Kornacka
authors.forename: Mieczysława
authors.initials: M
authors.lastname: Czerwionka-Szaflarska
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Gajewska
authors.forename: Urszula
authors.initials: U
authors.lastname: Godula-Stuglik
authors.forename: Marian
authors.initials: M
authors.lastname: Krawczynski
authors.forename: Janusz
authors.initials: J
authors.lastname: Limon
authors.forename: Józef
authors.initials: J
authors.lastname: Rusin
authors.forename: Henryka
authors.initials: H
authors.lastname: Sawulicka-Oleszczuk
authors.forename: Ewa
authors.initials: E
authors.lastname: Szwałkiewicz-Warowicka
authors.forename: Janusz
authors.initials: J
authors.lastname: Swietliński
authors.forename: Mieczysław
authors.initials: M
authors.lastname: Walczak
authors.forename: Anna
authors.initials: A
authors.lastname: Latos-Bieleńska
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology; D000650:Amnion / Q000293:injuries*; D000652:Amniotic Band Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D012042:Registries; D012421:Rupture; D018401:Sample Size