Literature DB >> 204751

Moebius syndrome, peripheral neuropathy and hypogonadotrophic hypogonadism.

F Abid, R Hall, P Hudgson, R Weiser.   

Abstract

The association of congenital ophthalmoplegia and facial paresis (Moebius syndrome) with a variety of other developmental somatic defects has been widely recognised. Its co-existence with hypogonadism of hypothalamic/pituitary origin and subclinical peripheral neuropathy has been reported and in this paper we describe the second case of the Moebius syndrome in association with hypogonadotrophic hypogonadism and a progressive peripheral neuropathy of mixed axonal and demyelinating type.

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Year:  1978        PMID: 204751     DOI: 10.1016/0022-510x(78)90011-4

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN: 0022-510X            Impact factor:   3.181


  9 in total

1.  The Moebius syndrome: aetiology, incidence of mental retardation, and genetics.

Authors:  T Lipson; W Webster; D D Weaver
Journal:  J Med Genet       Date:  1990-08       Impact factor: 6.318

Review 2.  Hypogonadism and neurological diseases.

Authors:  Abdulaziz Alsemari
Journal:  Neurol Sci       Date:  2013-01-05       Impact factor: 3.307

Review 3.  Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.

Authors:  M I Stamou; K H Cox; William F Crowley
Journal:  Endocr Rev       Date:  2015-09-22       Impact factor: 19.871

4.  Möbius-like syndrome due to multiple cerebral abnormalities including hypoplasia of the descending tracts. A case report.

Authors:  E Nardelli; M Vio; L Ghersini; N Rizzuto
Journal:  J Neurol       Date:  1982       Impact factor: 4.849

5.  Familial spastic paraplegia with Kallmann's syndrome.

Authors:  R R Tuck; B P O'Neill; H Gharib; D W Mulder
Journal:  J Neurol Neurosurg Psychiatry       Date:  1983-07       Impact factor: 10.154

Review 6.  Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.

Authors:  M I Stamou; K H Cox; William F Crowley
Journal:  Endocr Rev       Date:  2016-02       Impact factor: 19.871

7.  A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

Authors:  Sheena Chew; Ravikumar Balasubramanian; Wai-Man Chan; Peter B Kang; Caroline Andrews; Bryn D Webb; Sarah E MacKinnon; Darren T Oystreck; Jessica Rankin; Thomas O Crawford; Michael Geraghty; Scott L Pomeroy; William F Crowley; Ethylin Wang Jabs; David G Hunter; Patricia E Grant; Elizabeth C Engle
Journal:  Brain       Date:  2013-01-31       Impact factor: 13.501

8.  Moebius syndrome in association with hypogonadotropic hypogonadism.

Authors:  L E Brackett; L M Demers; A C Mamourian; C Ellenberger; R J Santen
Journal:  J Endocrinol Invest       Date:  1991 Jul-Aug       Impact factor: 4.256

9.  Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.

Authors:  Sarah MacKinnon; Darren T Oystreck; Caroline Andrews; Wai-Man Chan; David G Hunter; Elizabeth C Engle
Journal:  Ophthalmology       Date:  2014-03-06       Impact factor: 12.079

  9 in total

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