Literature DB >> 3561949

Tapetoretinal degeneration associated with multisystem abnormalities. A case report.

R M Liberfarb, O Katsumi, E Fleischnick, F Shapiro, T Hirose.   

Abstract

Tapetoretinal degeneration is not infrequently associated with other systemic abnormalities. The authors have examined an 11-year-old girl with severe pigmentary degeneration of the retina associated with severe musculoskeletal abnormalities, growth failure, recurrent respiratory problems, sensorineural hearing loss, and mental retardation. To the best of their knowledge, this constellation of features has not been described previously and probably represents a new clinical entity.

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Year:  1986        PMID： 3561949     DOI： 10.3109/13816818609004132

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN： 0167-6784


  2 in total

1.  Four sibs with dislocated elbows, bowed tibiae, scoliosis, deafness, cataract, microcephaly, and mental retardation: a new MCA/MR syndrome.

Authors:  A Mégarbané; K Kharrat; G Kreichati
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

2.  The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.

Authors:  Virginie G Peter; Mathieu Quinodoz; Jorge Pinto-Basto; Sergio B Sousa; Silvio Alessandro Di Gioia; Gabriela Soares; Gabriela Ferraz Leal; Eduardo D Silva; Rosanna Pescini Gobert; Noriko Miyake; Naomichi Matsumoto; Elizabeth C Engle; Sheila Unger; Frederic Shapiro; Andrea Superti-Furga; Carlo Rivolta; Belinda Campos-Xavier
Journal:  Genet Med       Date:  2019-07-02       Impact factor: 8.822
  2 in total

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