Literature DB >> 6492096

Four cases of trisomy 18 syndrome with limb reduction malformations.

A L Christianson, M M Nelson.   

Abstract

Limb reduction malformations of the arms are well documented in the trisomy 18 syndrome. Four cases of trisomy 18 syndrome with limb reduction malformations of the legs are described and compared with the upper limb malformations.

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Mesh：

Year:  1984        PMID： 6492096      PMCID： PMC1049301          DOI： 10.1136/jmg.21.4.293

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


  9 in total

1.  TRISOMY 18 SYNDROME WITH ABSENT RADIUS, VARUS DEFORMITY OF HAND, AND RUDIMENTARY THUMB: REPORT OF A CASE.

Authors:  M L VOORHESS; M J ASPILLAGA; L I GARDNER
Journal:  J Pediatr       Date:  1964-07       Impact factor: 4.406

2.  A PROBABLE 17-18 TRISOMY SYNDROME WITH PHOCOMELIA, EXOMPHALOS, AND AGENESIS OF HEMIDIAPHRAGM.

Authors:  T KAJII; K OIKAWA; K ITAKURA; T OHSAWA
Journal:  Arch Dis Child       Date:  1964-10       Impact factor: 3.791

3.  A new trisomic syndrome.

Authors:  J H EDWARDS; D G HARNDEN; A H CAMERON; V M CROSSE; O H WOLFF
Journal:  Lancet       Date:  1960-04-09       Impact factor: 79.321

4.  Multiple congenital anomaly caused by an extra autosome.

Authors:  K PATAU; D W SMITH; E THERMAN; S L INHORN; H P WAGNER
Journal:  Lancet       Date:  1960-04-09       Impact factor: 79.321

5.  Reduction malformations and chromosome anomalies.

Authors:  M K Bofinger; P S Dignan; R E Schmidt; J Warkany
Journal:  Am J Dis Child       Date:  1973-01

6.  Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.

Authors:  A I Taylor
Journal:  J Med Genet       Date:  1968-09       Impact factor: 6.318

7.  Trisomy 18, esophageal atresia, anomalies of the radius, and congenital hypoplastic thrombocytopenia.

Authors:  J G Rabinowitz; J E Moseley; H A Mitty; K Hirschhorn
Journal:  Radiology       Date:  1967-09       Impact factor: 11.105

Review 8.  Limb anomalies in chromosomal aberrations.

Authors:  R A Pfeiffer; R Santelmann
Journal:  Birth Defects Orig Artic Ser       Date:  1977

9.  Clinical experience with trisomies 18 and 13.

Authors:  M E Hodes; J Cole; C G Palmer; T Reed
Journal:  J Med Genet       Date:  1978-02       Impact factor: 6.318
  9 in total
  4 in total

1.  Replication status of fragile X(q27.3) in 13 female heterozygotes.

Authors:  E Tuckerman; T Webb; A Thake
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

2.  Frequency and replication status of the fragile X, fra(X)(q27-28), in a pair of monozygotic twins of markedly differing intelligence.

Authors:  E Tuckerman; T Webb; S E Bundey
Journal:  J Med Genet       Date:  1985-04       Impact factor: 6.318

3.  Trisomy 18 syndrome with cleft foot.

Authors:  D Castle; R Bernstein
Journal:  J Med Genet       Date:  1988-08       Impact factor: 6.318

4.  Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance.

Authors:  F Majewski; W Küster; B ter Haar; T Goecke
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
  4 in total

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