Literature DB >> 604491

Genetics of Möbius syndrome.

M Baraitser.   

Abstract

A study of the sibs and parents of 15 children diagnosed as having the Möbius syndrome suggests that the inclusion of primary skeletal defects as obligatory in the diagnosis of the syndrome helps to exclude the high risk monogenic disorders of muscle and anterior horn cell, which present with a Möbius-like facies in infancy.

Entities:  

Mesh：

Year:  1977        PMID： 604491      PMCID： PMC1013636          DOI： 10.1136/jmg.14.6.415

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


  6 in total

1.  [Familial congenital disorders of motility of the eye].

Authors:  K E KRUEGER; D FRIEDRICH
Journal:  Klin Monbl Augenheilkd       Date:  1963-02       Impact factor: 0.700

2.  Dystrophia myotonica in childhood.

Authors:  T M VANIER
Journal:  Br Med J       Date:  1960-10-29

3.  Neurologic aspects of the Mobius syndrome. A case study with electromyography of the extraocular and facial muscles.

Authors:  M W VAN ALLEN; F C BLODI
Journal:  Neurology       Date:  1960-03       Impact factor: 9.910

4.  The Möbius syndrome.

Authors:  R N RICHARDS
Journal:  J Bone Joint Surg Am       Date:  1953-04       Impact factor: 5.284

5.  Early-onset dystrophia myotonica. Evidence supporting a maternal environmental factor.

Authors:  P S Harper; P R Dyken
Journal:  Lancet       Date:  1972-07-08       Impact factor: 79.321

6.  Möbius syndrome and facioscapulohumeral muscular dystrophy.

Authors:  P A Hanson; L P Rowland
Journal:  Arch Neurol       Date:  1971-01
  6 in total
  16 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

2.  Cognitive evaluation in adult patients with Möbius syndrome.

Authors:  H T F M Verzijl; N van Es; H J C Berger; G W Padberg; K P M van Spaendonck
Journal:  J Neurol       Date:  2005-02       Impact factor: 4.849

Review 3.  Thalidomide embryopathy: a model for the study of congenital incomitant horizontal strabismus.

Authors:  M T Miller
Journal:  Trans Am Ophthalmol Soc       Date:  1991

Review 4.  Examining the genetics of congenital facial paralysis--a closer look at Moebius syndrome.

Authors:  Sameep Kadakia; Samuel N Helman; Thomas Schwedhelm; Masoud Saman; Babak Azizzadeh
Journal:  Oral Maxillofac Surg       Date:  2015-02-10

5.  Two cases of maternal antenatal splenic rupture and hypotension associated with Moebius syndrome and cerebral palsy in offspring. Further evidence for a utero placental vascular aetiology for the Moebius syndrome and some cases of cerebral palsy.

Authors:  A H Lipson; Y Gillerot; A E Tannenberg; S Giurgea
Journal:  Eur J Pediatr       Date:  1996-09       Impact factor: 3.183

6.  Moebius' syndrome with unilateral cerebellar hypoplasia.

Authors:  M G Harbord; J P Finn; M A Hall-Craggs; E M Brett; M Baraitser
Journal:  J Med Genet       Date:  1989-09       Impact factor: 6.318

7.  Maternal homocystinuria and Moebius syndrome? Vascular aetiology.

Authors:  N Gupta; M Y Anthony
Journal:  BMJ Case Rep       Date:  2011-02-14

Review 8.  Poland-Möbius syndrome.

Authors:  D L Parker; P R Mitchell; G L Holmes
Journal:  J Med Genet       Date:  1981-08       Impact factor: 6.318

9.  Goldenhar, Möbius and hypoglossia-hypodactyly anomalies in a patient: syndrome or association?

Authors:  S Preis; F Majewski; R Hantschmann; H Schumacher; H G Lenard
Journal:  Eur J Pediatr       Date:  1996-05       Impact factor: 3.183

10.  Autism associated with tetrasomy 15: A further report.

Authors:  Mohammad Ghaziuddin; Susan Sheldon; Sanjiv Venkataraman; Luke Tsai; Neera Ghaziuddin
Journal:  Eur Child Adolesc Psychiatry       Date:  1993-10       Impact factor: 4.785
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