Literature DB >> 36267337

Synophtalmia on a newborn.

Laetitia Bihamba Bira1, Franck Katembo Sikakulya2,3, Mupenzi Mumbere2, Jeff Mathe2.   

Abstract

Synophtalmia or cyclopia is a rare presentation of alobar holoprosencephaly. Cases which have been reported are stillborn or dead in post-delivery period. We are presenting a 3000-g live full-term newborn girl delivered by caesarean section with a well-marked cyclopia, but who died 30 min post-delivery. The case did not present with other abnormalities. The literature showed that genetic disorders are associated with cyclopia. A prenatal anomaly scan can help in the early detection of the condition and timely termination of the pregnancy can be conducted.
© The Author(s) 2022.

Entities:  

Keywords:  Cyclopia; Democratic Republic of the Congo; newborn; synophtalmia

Year:  2022        PMID: 36267337      PMCID: PMC9577069          DOI: 10.1177/2050313X221131651

Source DB:  PubMed          Journal:  SAGE Open Med Case Rep        ISSN: 2050-313X


  12 in total

Review 1.  Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.

Authors:  Iêda M Orioli; Emmanuelle Amar; Marian K Bakker; Eva Bermejo-Sánchez; Fabrizio Bianchi; Mark A Canfield; Maurizio Clementi; Adolfo Correa; Melinda Csáky-Szunyogh; Marcia L Feldkamp; Danielle Landau; Emanuele Leoncini; Zhu Li; R Brian Lowry; Pierpaolo Mastroiacovo; Margery Morgan; Osvaldo M Mutchinick; Anke Rissmann; Annukka Ritvanen; Gioacchino Scarano; Elena Szabova; Eduardo E Castilla
Journal:  Am J Med Genet C Semin Med Genet       Date:  2011-10-17       Impact factor: 3.908

Review 2.  Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.

Authors:  Thomas C Winter; Anne M Kennedy; Paula J Woodward
Journal:  Radiographics       Date:  2015 Jan-Feb       Impact factor: 5.333

Review 3.  Holoprosencephaly: a paradigm for the complex genetics of brain development.

Authors:  E Roessler; M Muenke
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

4.  A SHH-responsive signaling center in the forebrain regulates craniofacial morphogenesis via the facial ectoderm.

Authors:  Diane Hu; Ralph S Marcucio
Journal:  Development       Date:  2008-11-26       Impact factor: 6.868

5.  True cyclopia-very rare anomaly.

Authors:  K R Srinivasan; N Abraham Ratna Joseph; P Koteswary
Journal:  J Clin Diagn Res       Date:  2014-08-20

Review 6.  Holoprosencephaly.

Authors:  Christèle Dubourg; Claude Bendavid; Laurent Pasquier; Catherine Henry; Sylvie Odent; Véronique David
Journal:  Orphanet J Rare Dis       Date:  2007-02-02       Impact factor: 4.123

7.  Cyclopia: a rare condition with unusual presentation - a case report.

Authors:  Ghassan Sa Salama; Mahmoud Af Kaabneh; Mohamed K Al-Raqad; Ibrahim Mh Al-Abdallah; Ayoub Ga Shakkoury; Ruba Aa Halaseh
Journal:  Clin Med Insights Pediatr       Date:  2015-02-09

8.  Antenatal diagnosis of alobar holoprosencephaly.

Authors:  Rajesh Raman; Geetha Mukunda Jagadesh
Journal:  Case Rep Radiol       Date:  2014-07-14

9.  Alobar Holoprosencephaly with Cebocephaly in a Neonate Born to an HIV-Positive Mother in Eastern Uganda.

Authors:  Franck Katembo Sikakulya; Sonye Magugu Kiyaka; Robert Masereka; Robinson Ssebuufu
Journal:  Case Rep Otolaryngol       Date:  2021-10-25
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