Literature DB >> 2746613

Disorganisation: a model for 'early amnion rupture'?

D Donnai1, R M Winter.   

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.

Entities:  

Mesh:

Year:  1989        PMID: 2746613      PMCID: PMC1015643          DOI: 10.1136/jmg.26.7.421

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  8 in total

1.  AMNIOCHORIONIC MESOBLASTIC FIBROUS STRINGS AND AMNIONIC BANDS: ASSOCIATED CONSTRICTING FETAL MALFORMATIONS OR FETAL DEATH.

Authors:  R TORPIN
Journal:  Am J Obstet Gynecol       Date:  1965-01-01       Impact factor: 8.661

2.  Developmental anomalies in mice resulting from action of the gene, disorganization, a semi-dominant lethal.

Authors:  K P HUMMEL
Journal:  Pediatrics       Date:  1959-01       Impact factor: 7.124

3.  Body wall defects with reduction limb anomalies: a report of fifteen cases.

Authors:  R A Pagon; T D Stephens; B C McGillivray; J R Siebert; V J Wright; L L Hsu; B J Poland; I Emanuel; J G Hall
Journal:  Birth Defects Orig Artic Ser       Date:  1979

4.  Implications of malformations not due to amniotic bands in the amniotic band sequence.

Authors:  A G Hunter; B F Carpenter
Journal:  Am J Med Genet       Date:  1986-08

5.  Preaxial polydactyly of the foot associated with early amnion rupture: evidence for mechanical teratogenesis?

Authors:  J M Graham; M C Higginbottom; D W Smith
Journal:  J Pediatr       Date:  1981-06       Impact factor: 4.406

6.  Familial congenital amputations.

Authors:  P C Etches; A R Stewart; E J Ives
Journal:  J Pediatr       Date:  1982-09       Impact factor: 4.406

7.  The amniotic band disruption complex: timing of amniotic rupture and variable spectra of consequent defects.

Authors:  M C Higginbottom; K L Jones; B D Hall; D W Smith
Journal:  J Pediatr       Date:  1979-10       Impact factor: 4.406

8.  Familial amniotic bands.

Authors:  M Lubinsky; E Sujansky; W Sanger; P Salyards; C Severn
Journal:  Am J Med Genet       Date:  1983-01
  8 in total
  12 in total

1.  Fetal malformations caused by amnion rupture.

Authors:  F J Sheth; A S Multani; V C Shah; N J Chinoy
Journal:  Indian J Pediatr       Date:  1995 May-Jun       Impact factor: 1.967

2.  Triophthalmia and facial clefting: a case report.

Authors:  S M Tayel; M A Sabry; N A Kader; S Farah; S A Al-Awadi; T I Farag
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318

3.  Two-hit model for sporadic congenital anomalies in mice with the disorganization mutation.

Authors:  J L Crosby; D S Varnum; J H Nadeau
Journal:  Am J Hum Genet       Date:  1993-05       Impact factor: 11.025

4.  Human homologue for the mouse mutant disorganisation: does it exist?

Authors:  K K Naguib; M S Hamoud; E S Khalil; M Y el-Khalifa
Journal:  J Med Genet       Date:  1991-02       Impact factor: 6.318

5.  Amnion formation in the mouse embryo: the single amniochorionic fold model.

Authors:  Paulo N G Pereira; Mariya P Dobreva; Liz Graham; Danny Huylebroeck; Kirstie A Lawson; A N Zwijsen
Journal:  BMC Dev Biol       Date:  2011-08-01       Impact factor: 1.978

Review 6.  Dysmorphic disorders--an overview.

Authors:  D Donnai
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

7.  Diagnostic distinction between anencephaly and amnion rupture sequence based on skeletal analysis.

Authors:  J W Keeling; I Kjaer
Journal:  J Med Genet       Date:  1994-11       Impact factor: 6.318

8.  Human malformations similar to those in the mouse mutation disorganization (Ds).

Authors:  N H Robin; O O Adewale; D McDonald-McGinn; J H Nadeau; E H Zackai; M Bućan
Journal:  Hum Genet       Date:  1993-11       Impact factor: 4.132

9.  Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?

Authors:  Paul Kruszka; Annette Uwineza; Leon Mutesa; Ariel F Martinez; Yu Abe; Elaine H Zackai; Rebecca Ganetzky; Brian Chung; Roger E Stevenson; Robert S Adelstein; Xuefei Ma; James C Mullikin; Sung-Kook Hong; Maximilian Muenke
Journal:  Mol Genet Genomic Med       Date:  2015-05-06       Impact factor: 2.183

10.  Amniotic band syndrome and/or limb body wall complex: split or lump.

Authors:  Ashutosh Halder
Journal:  Appl Clin Genet       Date:  2010-02-04
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