Literature DB >> 17963257

Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis.

Holly H Ardinger1, Kimberly A Horii, Michael L Begleiter.   

Abstract

Oculoectodermal syndrome (OES) is characterized by epibulbar dermoids, aplasia cutis congenita, and other abnormalities. Here, we report 2 new cases, review 13 previous cases, and propose that OES may be a mild variant of encephalocraniocutaneous lipomatosis (ECCL), differing primarily in its lack of intracranial pathology. (c) 2007 Wiley-Liss, Inc.

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Mesh：

Year:  2007        PMID： 17963257     DOI： 10.1002/ajmg.a.31969

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  9 in total

Review 1.  A practical approach to the evaluation and treatment of an infant with aplasia cutis congenita.

Authors:  S R Humphrey; X Hu; K Adamson; A Schaus; J N Jensen; B Drolet
Journal:  J Perinatol       Date:  2017-10-19       Impact factor: 2.521

2.  Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

Authors:  James T Bennett; Tiong Yang Tan; Diana Alcantara; Martine Tétrault; Andrew E Timms; Dana Jensen; Sarah Collins; Malgorzata J M Nowaczyk; Marjorie J Lindhurst; Katherine M Christensen; Stephen R Braddock; Heather Brandling-Bennett; Raoul C M Hennekam; Brian Chung; Anna Lehman; John Su; SuYuen Ng; David J Amor; Jacek Majewski; Les G Biesecker; Kym M Boycott; William B Dobyns; Mark O'Driscoll; Ute Moog; Laura M McDonell
Journal:  Am J Hum Genet       Date:  2016-03-03       Impact factor: 11.025

3.  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

4.  Tip of an Iceberg: Skull Fracture as an Adult Presentation of Encephalocraniocutaneous Lipomatosis.

Authors:  Sinead Culleton; Christen D Barras; Hamed Asadi; Seamus Looby; Paul Brennan; Hong Kuan Kok
Journal:  Case Rep Neurol Med       Date:  2016-11-02

5.  A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures.

Authors:  Jee-Yeon Han; Mi-Sun Yum; Eun-Hee Kim; Seokho Hong; Tae-Sung Ko
Journal:  Korean J Pediatr       Date:  2016-11-30

6.  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

7.  Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.

Authors:  Oscar F Chacon-Camacho; Daniel Lopez-Moreno; Martha A Morales-Sanchez; Enriqueta Hofmann; Michelle Pacheco-Quito; Ilse Wieland; Vianney Cortes-Gonzalez; Cristina Villanueva-Mendoza; Martin Zenker; Juan Carlos Zenteno
Journal:  Mol Genet Genomic Med       Date:  2019-03-19       Impact factor: 2.183

8.  Ocular manifestations of ectodermal dysplasia.

Authors:  Daphna Landau Prat; William R Katowitz; Alanna Strong; James A Katowitz
Journal:  Orphanet J Rare Dis       Date:  2021-05-01       Impact factor: 4.303

9.  Ophthalmic Manifestation and Pathological Features in a Cohort of Patients With Linear Nevus Sebaceous Syndrome and Encephalocraniocutaneous Lipomatosis.

Authors:  Yan Yan; Siyi Zhang; Henghua Zhou; Yixiong Zhou; Yao Fu
Journal:  Front Pediatr       Date:  2021-05-20       Impact factor: 3.418
  9 in total

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