Literature DB >> 1271602

Progressive quadriparesis, mental retardation, retinitis pigmentosa, and hearing loss: report of two sibs.

A M Gordon, A J Capute, B W Konigsmark.   

Abstract

Three- and four-year-old brothers, ostensibly with a nonprogressive spastic quadriparesis, had retinitis pigmentosa and mental retardation. One had clinical deafness. The brothers showed little developmental progress in infancy and exhibited deterioration in childhood. Known metabolic and acquired causes were excluded. Although they have some features of several other syndromes,the condition reported here is unique.

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Year:  1976        PMID: 1271602

Source DB:  PubMed          Journal:  Johns Hopkins Med J        ISSN: 0021-7263


  3 in total

1.  Manifesting heterozygosity in sex-linked spastic paraplegia?

Authors:  I D Young; I F Pye; J R Moore
Journal:  J Neurol Neurosurg Psychiatry       Date:  1984-03       Impact factor: 10.154

2.  Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?

Authors:  A S Teebi; S Miller; H Ostrer; P Eydoux; C Colomb-Brockmann; K Oudjhane; G Watters
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

Review 3.  Cochlear Homocysteine Metabolism at the Crossroad of Nutrition and Sensorineural Hearing Loss.

Authors:  Teresa Partearroyo; Néstor Vallecillo; María A Pajares; Gregorio Varela-Moreiras; Isabel Varela-Nieto
Journal:  Front Mol Neurosci       Date:  2017-04-25       Impact factor: 5.639

  3 in total

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