Literature DB >> 1999828

Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'.

K D MacDermot1, R M Winter, D Taylor, M Baraitser.   

Abstract

We report a mother and son with 5th, 6th, 7th, and bulbar cranial nerve paralysis, who had two similarly affected relatives. None of them had primary skeletal defects. Twenty-six previous reports of familial cases within the heterogeneous 'Möbius spectrum of defects' were reviewed. When cranial nerve palsies were associated with a primary skeletal defect, familial transmission was not found. No recurrence was noted in 31 cases with cranial nerve palsies associated with oral abnormalities and limb defects. The term Möbius syndrome should be restricted to cases with congenital 6th and 7th nerve paralysis with skeletal defects, who have a low recurrence risk (2%). The features in an index case which may indicate a higher risk of recurrence are the absence of skeletal defects, isolated facial palsy, deafness, ophthalmoplegia, and digital contractures. A recurrence risk of 25 to 30% in these cases appears reasonable.

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Year:  1991        PMID: 1999828      PMCID: PMC1016742          DOI: 10.1136/jmg.28.1.18

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


  14 in total

1.  A family with Möbius syndrome.

Authors:  F Becker-Christensen; H T Lund
Journal:  J Pediatr       Date:  1974-01       Impact factor: 4.406

2.  Congenital facial diplegia.

Authors:  M HARRISON; N PARKER
Journal:  Med J Aust       Date:  1960-04-23       Impact factor: 7.738

3.  Three-generation pedigree of a Möbius syndrome variant with chromosome translocation.

Authors:  F A Ziter; W C Wiser; A Robinson
Journal:  Arch Neurol       Date:  1977-07

4.  Congenital bilateral facial paralysis.

Authors:  S Masaki
Journal:  Arch Otolaryngol       Date:  1971-09

5.  Autosomal dominantly inherited cutis aplasia congenita, ear malformations, right-sided facial paresis, and dermal sinuses.

Authors:  C E Anderson; D Hollister; G C Szalay
Journal:  Birth Defects Orig Artic Ser       Date:  1979

6.  Heterogeneity and pleiotropism in the Moebius syndrome.

Authors:  C Legum; V Godel; P Nemet
Journal:  Clin Genet       Date:  1981-10       Impact factor: 4.438

7.  Moebius syndrome in a child and extremity defect in her father.

Authors:  D L Collins; R N Schimke
Journal:  Clin Genet       Date:  1982-12       Impact factor: 4.438

8.  Genetics of Möbius syndrome.

Authors:  M Baraitser
Journal:  J Med Genet       Date:  1977-12       Impact factor: 6.318

9.  Studies of malformation syndromes of man XXXXI B: nosologic studies in the Hanhart and the Möbius syndrome.

Authors:  J Herrmann; P D Pallister; E F Gilbert; C Vieseskul; E Bersu; J C Pettersen; J M Opitz
Journal:  Eur J Pediatr       Date:  1976-04-06       Impact factor: 3.183

10.  Facial weakness and oligosyndactyly: ? independent variable features of familial type of the Möbius syndrome.

Authors:  N S Mitter; A E Chudley
Journal:  Clin Genet       Date:  1983-11       Impact factor: 4.438

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  7 in total

1.  Magnetic resonance imaging of the endophenotype of a novel familial Möbius-like syndrome.

Authors:  Sean Dumars; Caroline Andrews; Wai-Man Chan; Elizabeth C Engle; Joseph L Demer
Journal:  J AAPOS       Date:  2008-05-02       Impact factor: 1.220

2.  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

3.  Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.

Authors:  Elias I Traboulsi
Journal:  Trans Am Ophthalmol Soc       Date:  2004

4.  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

5.  A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant].

Authors:  Julia C Schröder; Anne K Läßig; Danuta Galetzka; Angelika Peters; John C Castle; Stefan Diederich; Ulrich Zechner; Wibke Müller-Forell; Annerose Keilmann; Oliver Bartsch
Journal:  Behav Brain Funct       Date:  2013-02-18       Impact factor: 3.759

6.  Moebius-Poland syndrome and hypogonadotropic hypogonadism.

Authors:  Diego López de Lara; Jaime Cruz-Rojo; Jaime Sánchez del Pozo; Maria Elena Gallego Gómez; Gregorio Lledó Valera
Journal:  Eur J Pediatr       Date:  2007-03-31       Impact factor: 3.183

7.  An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.

Authors:  Ronak M Patel; David Liu; Claudia Gonzaga-Jauregui; Shalini Jhangiani; James T Lu; V Reid Sutton; Susan D Fernbach; Mahshid Azamian; Lisa White; Jane C Edmond; Evelyn A Paysse; John W Belmont; Donna Muzny; James R Lupski; Richard A Gibbs; Richard Alan Lewis; Brendan H Lee; Seema R Lalani; Philippe M Campeau
Journal:  Cold Spring Harb Mol Case Stud       Date:  2017-03
  7 in total

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