Literature DB >> 490585

Congenital horizontal gaze palsy and kyphoscoliosis in two brothers.

E Riley, M Swift.   

Abstract

In a sibship of 11, two brothers with a congenital complete horizontal gaze palsy developed severe kyphoscoliosis. No-one else in the family has a gaze palsy or comparable skeletal abnormalities. Since the parents are first cousins, an autosomal recessive mode of inheritance seems likely.

Entities:  

Mesh：

Year:  1979        PMID： 490585      PMCID： PMC1012677          DOI： 10.1136/jmg.16.4.314

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


  8 in total

1.  A type of congenital ocular motor apraxia presenting jerky head movements.

Authors:  D G COGAN
Journal:  Am J Ophthalmol       Date:  1953-04       Impact factor: 5.258

2.  Infantile idiopathic scoliosis. Causative factors, particularly in the first six months of life.

Authors:  R Wynne-Davies
Journal:  J Bone Joint Surg Br       Date:  1975-05

3.  Scoliosis with progressive external ophthalmoplegia in four siblings.

Authors:  R J Crisfield
Journal:  J Bone Joint Surg Br       Date:  1974-08

4.  Cogan's congenital ocular motor apraxia in two successive generations.

Authors:  F Vassella; J Lütschg; M Mumenthaler
Journal:  Dev Med Child Neurol       Date:  1972-12       Impact factor: 5.449

5.  Congenital ocular apraxia.

Authors:  M C Colenbrander
Journal:  Ophthalmologica       Date:  1970       Impact factor: 3.250

6.  Congenital ocular motor apraxia.

Authors:  D S Zee; R D Yee; H S Singer
Journal:  Brain       Date:  1977-09       Impact factor: 13.501

7.  Idiopathic scoliosis: genetic and environmental aspects.

Authors:  F V De George; R L Fisher
Journal:  J Med Genet       Date:  1967-12       Impact factor: 6.318

8.  A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients.

Authors:  B G Neville; B D Lake; R Stephens; M D Sanders
Journal:  Brain       Date:  1973       Impact factor: 13.501
  8 in total
  3 in total

1.  Congenital absence of conjugate horizontal eye movements.

Authors:  J A Kruis; W A Houtman; T W Van Weerden
Journal:  Doc Ophthalmol       Date:  1987 Sep-Oct       Impact factor: 2.379

2.  Bilateral congenital absence of the abducens nerve.

Authors:  W F Hickey; M D Wagoner
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1983

3.  Scoliosis associated with congenital brain-stem abnormalities. A report of eight cases.

Authors:  E K Dretakis
Journal:  Int Orthop       Date:  1984       Impact factor: 3.075
  3 in total

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