Literature DB >> 314984

Night blindness, characteristic facies, and skeletal abnormalities in two brothers.

A G Hunter, D R Thompson, M H Reed, A G Macrodimitris.   

Abstract

Two brothers are described with a similar physical appearance characterised by minor periorbital anomalies, malar flatness, a maxillary overbite, retrognathia, sloping shoulders, joint hyperextensibility, and minor radiological anomalies. In addition, they had a slowly progressing night blindness, myopia, and extinguished electroretinograms. The mother had mild expression of some of the physical anomalies and a decreased electroretinogram response to red light. We have been unable to find any report of similarly affected children. The possible modes of inheritance are discussed.

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Mesh:

Year:  1979        PMID: 314984      PMCID: PMC1012676          DOI: 10.1136/jmg.16.4.309

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  7 in total

1.  [Familial nephropathy with bone and chorioretinal involvement].

Authors:  B ANTOINE; S BRAUN-VALLON; D PERRIN; J P DUNOD; A RYCKEWAERT
Journal:  J Urol Nephrol (Paris)       Date:  1963 Jan-Feb

2.  Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities.

Authors:  M Popović-Rolović; N Calić-Perisíc; G Bunjevacki; D Negovanović
Journal:  Arch Dis Child       Date:  1976-10       Impact factor: 3.791

3.  Sex-linked myopic chorioretinal heredodegeneration.

Authors:  J François; A De Rouck
Journal:  Am J Ophthalmol       Date:  1965-10       Impact factor: 5.258

4.  Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities.

Authors:  F Mainzer; R M Saldino; M B Ozonoff; H Minagi
Journal:  Am J Med       Date:  1970-10       Impact factor: 4.965

5.  Retinitis pigmentosa without pigment.

Authors:  J T Pearlman; T P Flood; S R Seiff
Journal:  Am J Ophthalmol       Date:  1976-04       Impact factor: 5.258

Review 6.  The Stickler syndrome (hereditary arthroophthalmopathy).

Authors:  J Herrmann; T D France; J W Spranger; J M Opitz; C Wiffler
Journal:  Birth Defects Orig Artic Ser       Date:  1975

7.  Distal brachyphalangy of the thumb in mental retardation.

Authors:  M M Villaverde; J A da Silva
Journal:  J Med Genet       Date:  1975-12       Impact factor: 6.318

  7 in total

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