Literature DB >> 20422326

Opsismodysplasia.

Leslie Edward S Lewis1, Y Ramesh Bhat, Prashant Naik, Kanchan Sethi, K M Girisha.   

Abstract

Opsismodysplasia is a rare osteochondrodysplasia with micromelia and platyspondyly. We report on a neonate with opsismodysplasia. During the antenatal period, polyhydramnios was noted. This is the first report of opsismodysplasia from India. Significant observation was antenatal polyhydramnios.

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Mesh：

Year:  2010        PMID： 20422326     DOI： 10.1007/s12098-010-0043-z

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  6 in total

1.  Five familial cases of opsismodysplasia substantiate the hypothesis of autosomal recessive inheritance.

Authors:  K Tyler; N Sarioglu; J Kunze
Journal:  Am J Med Genet       Date:  1999-03-05

2.  Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases.

Authors:  V Cormier-Daire; A L Delezoide; N Philip; P Marcorelles; K Casas; Y Hillion; L Faivre; D L Rimoin; A Munnich; P Maroteaux; M Le Merrer
Journal:  J Med Genet       Date:  2003-03       Impact factor: 6.318

3.  Atlanto-axial segmentation defects and os odontoideum in two male siblings with opsismodysplasia.

Authors:  Ali Al Kaissi; Farid Ben Chehida; Maher Ben Ghachem; Franz Grill; Klaus Klaushofer
Journal:  Skeletal Radiol       Date:  2008-12-03       Impact factor: 2.199

4.  Hypophosphatemic rickets in opsismodysplasia.

Authors:  Martha Dechert Zeger; Deanna Adkins; Lynn A Fordham; Kenneth E White; Eckhard Schoenau; Frank Rauch; Karen J Loechner
Journal:  J Pediatr Endocrinol Metab       Date:  2007-01       Impact factor: 1.634

5.  A further case of opsismodysplasia with hydrocephalus.

Authors:  Feliciano J Ramos; Juan P González; Carmen Cortabarria; Eduardo Domenech; José Pérez-González; Manuel Bueno
Journal:  Eur J Med Genet       Date:  2006 Jan-Feb       Impact factor: 2.708

6.  Opsismodysplasia: a new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae.

Authors:  P Maroteaux; V Stanescu; R Stanescu; B Le Marec; C Moraine; H Lejarraga
Journal:  Am J Med Genet       Date:  1984-09
  6 in total
  1 in total

Review 1.  INPPL1 gene mutations in opsismodysplasia.

Authors:  Anaïs Fradet; Jamie Fitzgerald
Journal:  J Hum Genet       Date:  2016-10-06       Impact factor: 3.172
  1 in total

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