Literature DB >> 2036354

Ablepharon macrostomia syndrome.

N J Price1, R E Pugh, P A Farndon, H E Willshaw.   

Abstract

The association of congenital ablepharon with the absence of eyelashes and eyebrows, a wide mouth (macrostomia), and auricular, nasal, genital, and other systemic anomalies has been termed the ablepharon macrostomia syndrome. One such case is reported which illustrates the importance of immediate postnatal ocular management to minimise severe visual loss.

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Year:  1991        PMID： 2036354      PMCID： PMC1042366          DOI： 10.1136/bjo.75.5.317

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


  10 in total

1.  CRYPTOPHTHALMOS.

Authors:  S P Gupta; R C Saxena
Journal:  Br J Ophthalmol       Date:  1962-10       Impact factor: 4.638

2.  Ablepheron macrostomia syndrome.

Authors:  G T McCarthy; C M West
Journal:  Dev Med Child Neurol       Date:  1977-10       Impact factor: 5.449

3.  Malformative syndrome with cryptophthalmia.

Authors:  J Francois
Journal:  Int Ophthalmol Clin       Date:  1968

4.  The cryptophthalmos-syndactyly syndrome.

Authors:  H S Sugar
Journal:  Am J Ophthalmol       Date:  1968-11       Impact factor: 5.258

5.  Multiple congenital abnormalities associated with cryptophthalmia.

Authors:  C H Ide; P B Wollschlaeger
Journal:  Arch Ophthalmol       Date:  1969-05

6.  Cryptophthalmos in two families from Bahia, Brazil.

Authors:  E S Azevêdo; J Biondi; L M Ramalho
Journal:  J Med Genet       Date:  1973-12       Impact factor: 6.318

7.  Salvage of seeing eyes after avulsion of upper and lower lids.

Authors:  B M Achauer; F J Menick
Journal:  Plast Reconstr Surg       Date:  1985-01       Impact factor: 4.730

Review 8.  Lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis--a new syndrome?

Authors:  E J Cesarino; M Pinheiro; N Freire-Maia; M C Meira-Silva
Journal:  Am J Med Genet       Date:  1988-10

9.  Reconstruction of both eyelids following traumatic loss.

Authors:  D Hay
Journal:  Br J Plast Surg       Date:  1971-10

10.  Ablepharon macrostomia syndrome.

Authors:  A Hornblass; D M Reifler
Journal:  Am J Ophthalmol       Date:  1985-05-15       Impact factor: 5.258
  10 in total
  4 in total

1.  Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Authors:  Shannon Marchegiani; Taylor Davis; Federico Tessadori; Gijs van Haaften; Francesco Brancati; Alexander Hoischen; Haigen Huang; Elise Valkanas; Barbara Pusey; Denny Schanze; Hanka Venselaar; Anneke T Vulto-van Silfhout; Lynne A Wolfe; Cynthia J Tifft; Patricia M Zerfas; Giovanna Zambruno; Ariana Kariminejad; Farahnaz Sabbagh-Kermani; Janice Lee; Maria G Tsokos; Chyi-Chia R Lee; Victor Ferraz; Eduarda Morgana da Silva; Cathy A Stevens; Nathalie Roche; Oliver Bartsch; Peter Farndon; Eva Bermejo-Sanchez; Brian P Brooks; Valerie Maduro; Bruno Dallapiccola; Feliciano J Ramos; Hon-Yin Brian Chung; Cédric Le Caignec; Fabiana Martins; Witold K Jacyk; Laura Mazzanti; Han G Brunner; Jeroen Bakkers; Shuo Lin; May Christine V Malicdan; Cornelius F Boerkoel; William A Gahl; Bert B A de Vries; Mieke M van Haelst; Martin Zenker; Thomas C Markello
Journal:  Am J Hum Genet       Date:  2015-06-25       Impact factor: 11.025

2.  A Systematic Approach of the Intrauterine Morphogenesis of the Human Palpebral Apparatus.

Authors:  Octavian Munteanu; Florin-Mihail Filipoiu; Monica Mihaela Cirstoiu; Roxana Elena Bohiltea; Tiberiu Augustin Georgescu; Adrian Dumitru; Andra-Ioana Băloiu; Mihai-Alin Publik; Ioan-Andrei Petrescu
Journal:  Organogenesis       Date:  2022-12-31       Impact factor: 2.316

3.  Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q.

Authors:  J E Pellegrino; R E Schnur; L Boghosian-Sell; G Strathdee; J Overhauser; N B Spinner; T Stump; K Grace; E H Zackai
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132

4.  Clinical variant of ablepharon macrostomia syndrome.

Authors:  Jose Larumbe; Patricia Villalta; Ines Velez
Journal:  Case Rep Dermatol Med       Date:  2012-01-05
  4 in total

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