Literature DB >> 537018

Familial infantile scoliosis associated with bilateral paralysis of conjugate gaze.

M Granat, Z Friedman, T Aloni.   

Abstract

A family with two sibs suffering from idiopathic infantile scoliosis associated with bilateral paralysis of conjugate gaze is reported. Although the parental consanguinity and the involvement of patients of both sexes in this family are suggestive of an autosomal recessive mode of inheritance, a dominant or multifactorial pattern remains a possibility.

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Year:  1979        PMID： 537018      PMCID： PMC1012592          DOI： 10.1136/jmg.16.6.448

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


  4 in total

1.  Congenital scoliosis associated with encephalopathy in five children of two families.

Authors:  E K Dretakis; P N Kondoyannis
Journal:  J Bone Joint Surg Am       Date:  1974-12       Impact factor: 5.284

2.  A genetic survey of idiopathic scoliosis in Boston, Massachusetts.

Authors:  E J Riseborough; R Wynne-Davies
Journal:  J Bone Joint Surg Am       Date:  1973-07       Impact factor: 5.284

3.  Isolated congenital horizontal gaze paralysis. Occurrence of the near reflex and ocular retraction on attempted lateral gaze.

Authors:  P H Zweifach; D S Walton; R H Brown
Journal:  Arch Ophthalmol       Date:  1969-03

4.  Familial paralysis of horizontal gaze. Associated with pendular nystagmus, progressive scoliosis, and facial contraction with myokymia.

Authors:  J A Sharpe; J L Silversides; R D Blair
Journal:  Neurology       Date:  1975-11       Impact factor: 9.910
  4 in total
  1 in total

1.  Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.

Authors:  W-M Chan; E I Traboulsi; B Arthur; N Friedman; C Andrews; E C Engle
Journal:  J Med Genet       Date:  2006-03       Impact factor: 6.318
  1 in total

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