Literature DB >> 22707369

Maternal homocystinuria and Moebius syndrome? Vascular aetiology.

N Gupta1, M Y Anthony.   

Abstract

A case of Moebius syndrome is reported in an infant of a mother known to have pyridoxine-unresponsive homocystinuria. The authors suggest that Moebius syndrome could result from early vascular insufficiency or disruption occurring early in development related to maternal homocystinuria. Moebius syndrome consists of congenital complete or partial facial nerve palsy with or without paralysis of other cranial nerves and often in association with other malformations of the limbs and orofacial structures, but usually without gross structural brain abnormalities.

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Year:  2011        PMID: 22707369      PMCID: PMC3062824          DOI: 10.1136/bcr.09.2010.3331

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  16 in total

1.  Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment.

Authors:  Harriëtte T F M Verzijl; Bert van der Zwaag; Johannes R M Cruysberg; George W Padberg
Journal:  Neurology       Date:  2003-08-12       Impact factor: 9.910

2.  Fetal tissue amino acid concentrations in argininosuccinic aciduria and in "maternal homocystinuria".

Authors:  D K Rassin; L D Fleisher; A Muir; R J Desnick; G E Gaull
Journal:  Clin Chim Acta       Date:  1979-06-01       Impact factor: 3.786

3.  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

4.  Möbius syndrome. Neuropathologic observations.

Authors:  J Towfighi; K Marks; E Palmer; R Vannucci
Journal:  Acta Neuropathol       Date:  1979-10       Impact factor: 17.088

5.  Genetics of Möbius syndrome.

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

6.  Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition.

Authors:  Z Chen; A C Karaplis; S L Ackerman; I P Pogribny; S Melnyk; S Lussier-Cacan; M F Chen; A Pai; S W John; R S Smith; T Bottiglieri; P Bagley; J Selhub; M A Rudnicki; S J James; R Rozen
Journal:  Hum Mol Genet       Date:  2001-03-01       Impact factor: 6.150

Review 7.  Hyperhomocysteinemia and pregnancy--review of our present understanding and therapeutic implications.

Authors:  Y Aubard; N Darodes; M Cantaloube
Journal:  Eur J Obstet Gynecol Reprod Biol       Date:  2000-12       Impact factor: 2.435

8.  Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency.

Authors:  H L Levy; J E Vargas; S E Waisbren; T W Kurczynski; E R Roeder; R S Schwartz; S Rosengren; C Prasad; C R Greenberg; B M Gilfix; D MacGregor; V E Shih; L Bao; J P Kraus
Journal:  J Inherit Metab Dis       Date:  2002-08       Impact factor: 4.982

9.  Maternal homocystinuria: studies of an untreated mother and fetus.

Authors:  T W Kurczynski; W A Muir; L D Fleisher; J F Palomaki; G E Gaull; D K Rassin; C Abramowsky
Journal:  Arch Dis Child       Date:  1980-09       Impact factor: 3.791

10.  The spectrum of congenital facial diplegia (Moebius syndrome).

Authors:  A Sudarshan; W D Goldie
Journal:  Pediatr Neurol       Date:  1985 May-Jun       Impact factor: 3.372

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  1 in total

Review 1.  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
  1 in total

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