Literature DB >> 3295844

Early prenatal diagnosis of a lethal syndrome of multiple congenital contractures.

P Kirkinen, R Herva, J Leisti.   

Abstract

An ultrasonic diagnosis of a lethal, autosomally recessive syndrome of multiple congenital contractures was made in seven high-risk pregnancies on the 13rd to 17th gestational weeks. The diagnostic findings were the development of progressive subcutaneous oedema from the 13th gestational week on and the decrease of fetal limb movements.

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Year:  1987        PMID: 3295844     DOI: 10.1002/pd.1970070306

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  4 in total

Review 1.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

2.  Lethal congenital contracture syndrome: further delineation and genetic aspects.

Authors:  K Vuopala; R Herva
Journal:  J Med Genet       Date:  1994-07       Impact factor: 6.318

3.  Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus.

Authors:  K Vuopala; P Mäkelä-Bengs; A Suomalainen; R Herva; J Leisti; L Peltonen
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

4.  Fetal musculoskeletal malformations with a poor outcome: ultrasonographic, pathologic, and radiographic findings.

Authors:  Soo Hyun Lee; Jeong Yeon Cho; Mi Jin Song; Jee Yeon Min; Byoung Hee Han; Young Ho Lee; Byung Jae Cho; Seung Hyup Kim
Journal:  Korean J Radiol       Date:  2002 Apr-Jun       Impact factor: 3.500

  4 in total

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