Literature DB >> 2006828

[Pseudo-diastrophic dysplasia].

J G Bertrand1, A Tyazi, C Zaoui, M F Vandevelde, C Desmettre, P Ramaherisson, P H Cuingnet, J L Noel, J Bertrand.   

Abstract

A new case of pseudo-diastrophic dysplasia in a boy born to consanguineous parents is reported. The patient developed neurologic (hydrocephalus) and respiratory anomalies and died at the age of 11 months of an unknown cause. Features that distinguish this chondrodysplasia from diastrophic dysplasia include decreased height of vertebral bodies and anomalies of the pelvis with short iliac wings and a horizontal orientation of the internal spine of the acetabular roof.

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Year:  1991        PMID: 2006828

Source DB:  PubMed          Journal:  Ann Pediatr (Paris)        ISSN: 0066-2097


  2 in total

1.  Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.

Authors:  Alicia B Byrne; Shuji Mizumoto; Peer Arts; Patrick Yap; Jinghua Feng; Andreas W Schreiber; Milena Babic; Sarah L King-Smith; Christopher P Barnett; Lynette Moore; Kazuyuki Sugahara; Hatice Mutlu-Albayrak; Gen Nishimura; Jan E Liebelt; Shuhei Yamada; Ravi Savarirayan; Hamish S Scott
Journal:  J Med Genet       Date:  2020-01-27       Impact factor: 6.318

2.  Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.

Authors:  Chaya Murali; James T Lu; Mahim Jain; David S Liu; Ralph Lachman; Richard A Gibbs; Brendan H Lee; Daniel Cohn; Philippe M Campeau
Journal:  Mol Genet Metab Rep       Date:  2014
  2 in total

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