Literature DB >> 1415345

Overlap between Majewski and hydrolethalus syndromes: a report of two cases.

A K Sharma1, S Phadke, K Chandra, M Upreti, E M Khan, M Naveed, S S Agarwal.   

Abstract

We present 2 unrelated fetuses with manifestations of both the hydrolethalus syndrome and the short rib-polydactyly syndrome, type Majewski. It is proposed that cases of hydrolethalus syndrome with short limbs constitute a separate type of lethal osteochondrodysplasia mimicking short rib-polydactyly syndromes.

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Year:  1992        PMID： 1415345     DOI： 10.1002/ajmg.1320430609

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  3 in total

1.  Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25.

Authors:  I Visapää; R Salonen; T Varilo; P Paavola; L Peltonen
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

2.  Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.

Authors:  M L Martínez-Frías; E Bermejo; M Urioste; H Huertas; I Arroyo
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318

3.  A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.

Authors:  Piya Lahiry; Jian Wang; John F Robinson; Jacob P Turowec; David W Litchfield; Matthew B Lanktree; Gregory B Gloor; Erik G Puffenberger; Kevin A Strauss; Mildred B Martens; David A Ramsay; C Anthony Rupar; Victoria Siu; Robert A Hegele
Journal:  Am J Hum Genet       Date:  2009-01-29       Impact factor: 11.025
  3 in total

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