Literature DB >> 3293678

A new feature of the ablepharon macrostomia syndrome: zygomatic arch absence.

I T Jackson1, K E Shaw, F del Pinal Matorras.   

Abstract

The ablepharon macrostomia syndrome is an extremely rare congenital anomaly. It is characterised by bilateral absence or hypoplasia of lower eyelids, macrostomia and multiple other congenital anomalies. Three cases have been reported (McCarthy and West, 1977; Hornblass and Reifler, 1985). In addition to ablepharon and macrostomia, other anomalies common to all patients include auricular deformity, nasal alar deformity, absence of lanugo hair, dry, ichthyotic skin and ambiguous genitalia. A new feature of the syndrome is described--absence of the zygomatic arches. In addition, an expanded and revised classification of the ablepharon macrostomia syndrome and related disorders is presented. Skin graft pigmentation in this black patient has been prevented by prolonged application of sun block.

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Year:  1988        PMID: 3293678     DOI: 10.1016/0007-1226(88)90084-7

Source DB:  PubMed          Journal:  Br J Plast Surg        ISSN: 0007-1226


  7 in total

1.  Surgical outcome of 21 patients with congenital upper eyelid coloboma.

Authors:  Arshad Ali Lodhi; Sameen Afzal Junejo; Mahtab Alam Khanzada; Imran Akram Sahaf; Zahid Kamal Siddique
Journal:  Int J Ophthalmol       Date:  2010-03-18       Impact factor: 1.779

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

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.  Transverse facial cleft: A series of 17 cases.

Authors:  L K Makhija; M K Jha; Sameek Bhattacharya; Ashish Rai; Anju Bala Dey; Abhijeet Saha
Journal:  Indian J Plast Surg       Date:  2011-09

Review 5.  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

6.  Clinical variant of ablepharon macrostomia syndrome.

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

7.  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
  7 in total

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