These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [Smith Lemli Opitz Syndrome type II of neonatal diagnosis and review of the most interesting clinical features].
    Author: Ramírez-Gómara A, Castejón-Ponce E, Martínez-Martínez M, García-Bodega O, Rite-Gracia S, Segura- Arazuri D, López-Pisón J, Baldellou-Vázquez A, Marco-Tello A, López-López A, Rebage-Moisés V.
    Journal: Rev Neurol; ; 34(10):946-50. PubMed ID: 12134326.
    Abstract:
    INTRODUCTION: Smith Lemli Opitz syndrome is an autosomal recessive metabolic disease, two forms can be differentiated: type I and type II. CASE REPORT: We present the clinical case of a female newborn with antecedents of oligoamnios and intrauterine growth retardation who presented a characteristic malformative syndrome, severe neurological impairment, anomalies of the limbs, pyloric stenosis, and renal and cardiac defects. Determination of cholesterol and its precursors by gas chromatography confirmed the clinical diagnosis of a severe form with exitus at six months of age. At the same time a review of the syndrome is presented.
    [Abstract] [Full Text] [Related] [New Search]