Literature DB >> 913905

Ablepheron macrostomia syndrome.

G T McCarthy, C M West.   

Abstract

Two male children are reported with similar features, including absent eyelids, eyebrows, eyelashes and hair, fusion defects of the mouth, expressionless facies, rudimentary external ears (but normal hearing), ambiguous genitalia, absent or rudimentary nipples, coarse dry skin with redundant skin folds and delayed expressive language development. The relationship of this syndrome to previously reported cryptophthalmos syndromes is discussed.

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Mesh:

Year:  1977        PMID: 913905     DOI: 10.1111/j.1469-8749.1977.tb07999.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


  8 in total

1.  Ablepharon macrostomia syndrome.

Authors:  N J Price; R E Pugh; P A Farndon; H E Willshaw
Journal:  Br J Ophthalmol       Date:  1991-05       Impact factor: 4.638

2.  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

Review 3.  Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.

Authors:  A M Slavotinek; C J Tifft
Journal:  J Med Genet       Date:  2002-09       Impact factor: 6.318

4.  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

5.  Reconstruction of the lids of a child with microblepharon and multiple congenital anomalies.

Authors:  J C Merriam; M C Stalnecker; G R Merriam
Journal:  Trans Am Ophthalmol Soc       Date:  1988

Review 6.  Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives.

Authors:  Hatem A Tawfik; Mohamed H Abdulhafez; Yousef A Fouad
Journal:  Ophthalmic Plast Reconstr Surg       Date:  2015 Jan-Feb       Impact factor: 1.746

7.  Clinical variant of ablepharon macrostomia syndrome.

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

8.  A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting.

Authors:  Eric Feinstein; Aisha S Traish; Vinay Aakalu; Iris S Kassem
Journal:  Case Rep Ophthalmol       Date:  2015-10-30
  8 in total

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