Indexed with PubMed and Science Citation Index (E) 
Users online: 1026 
     Home | Feedback | Login 
About Current Issue Archive Ahead of print Search Instructions Online Submission Subscribe What's New Contact  
    Next article
    Previous article
    Table of Contents

    Similar in PUBMED
    Search Pubmed for
    Search in Google Scholar for
  Related articles
    Citation Manager
    Access Statistics
    Reader Comments
    Email Alert *
    Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded230    
    Comments [Add]    
    Cited by others 3    

Recommend this journal


Year : 2008  |  Volume : 74  |  Issue : 5  |  Page : 487--489

Neu-Laxova syndrome in an appropriate for gestational age newborn

1 Department of Pediatrics, Ministry of Health Ankara Training and Research Hospital, Ankara, Turkey
2 Department of Neonatology, Zekai Tahir Burak Maternity Hospital, Ankara, Turkey
3 Department of Medical Genetics, Zekai Tahir Burak Maternity Hospital, Ankara, Turkey

Correspondence Address:
Dilek Dilli
Varlik mah. Yüzücü sok. Anadolu Apt. No. 27/6 Zip code: 061 20, Yenimahalle/Ankara
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0378-6323.44307

Rights and Permissions

Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial findings, and limb contractures are its key features. We present a case of Neu-Laxova syndrome in a male appropriate for gestational age (AGA) newborn with characteristic features including ichthyosis, microcephaly, severe ectropion, rudimentary ears, eclabion, limb contractures, and hypoplastic genitalia. The patient was born at 38 weeks of gestation to consanguinous Turkish parents. The mother was a 20-year-old primi gravida with lack of prenatal follow-up. Therefore, the case was diagnosed postnatally, and he died 5 days later. Because of the autosomal recessive inheritance of Neu-Laxova syndrome, in countries with high rates of consanguineous marriage, such as Turkey, physicians have to know this syndrome, and serial prenatal ultrasound examinations with genetic counseling should be performed on pregnant women at high risk. To the best of our knowledge, this is the first case described in an AGA newborn.


Print this article     Email this article

Online since 15th March '04
Published by Wolters Kluwer - Medknow