Literature DB >> 16272058

A new case of oculoectodermal syndrome.

Thomas K M Lee1, Royce L C Johnson, Ian M MacDonald, Alfons L Krol, J Stephen Bamforth.   

Abstract

An 11-month-old infant girl presented with right-sided features of aplasia cutis congenita of the scalp, unilateral epibulbar dermoids, eccentric pupil, coloboma of the right upper eyelid, and depigmentation of the fundus surrounding the right optic nerve. These findings were similar to the oculoectodermal syndrome reported by other clinicians and researchers.

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Year:  2005        PMID： 16272058     DOI： 10.1080/13816810500228811

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN： 1381-6810            Impact factor:   1.803


  4 in total

1.  A Filipino male with encephalocraniocutaneous lipomatosis (Haberland's syndrome).

Authors:  Iris Alessandra S Pardo; Marie Eleanore O Nicolas
Journal:  J Dermatol Case Rep       Date:  2013-06-30

2.  Oculo-ectodermal syndrome: A case report and further delineation of the syndrome.

Authors:  Fajish Habib; Mahmoud F Elsaid; Khalid Yacout Salem; Khalid Omer Ibrahim; Khalid Mohamed
Journal:  Qatar Med J       Date:  2014-12-09

Review 3.  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

4.  Oculoectodermal syndrome: twentieth described case with new manifestations.

Authors:  Daniela de Almeida Figueiras; Deborah Maria de Castro Barbosa Leal; Valter Kozmhinsky; Marina Coutinho Domingues Querino; Marina Genesia da Silva Regueira; Maria Gabriela de Morais Studart
Journal:  An Bras Dermatol       Date:  2016 Sep-Oct       Impact factor: 1.896
  4 in total

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