Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Septo-optic dysplasia.

C G Brook, M D Sanders, R D Hoare

    British Medical Journal
    |September 30, 1972
    PubMed
    Summary
    This summary is machine-generated.

    This study identifies a syndrome in children with optic nerve hypoplasia and absent septum pellucidum, often linked to endocrine dysfunction. Early recognition and growth monitoring are crucial for potential treatment with human growth hormone.

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    Nutrition and cellular growth.

    Archives of disease in childhood·2010
    Same author

    With commentary.

    Archives of disease in childhood·2010
    Same author

    Evaluation of the combination of GnRH and HCG tests in differentiating constitutional delay of growth and puberty from hypogonadotropic hypogonadism in males.

    Annals of Saudi medicine·2007
    Same author

    Kinetics and effect of percutaneous administration of dihydrotestosterone in children.

    Hormone research·2002
    Same author

    Serum cortisol and 17-hydroxyprogesterone interrelation in classic 21-hydroxylase deficiency: is current replacement therapy satisfactory?

    The Journal of clinical endocrinology and metabolism·2001
    Same author

    Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia.

    Molecular genetics and metabolism·2001
    Same journal

    Muscular pain during therapy with carbenoxolone (Biogastrone).

    British medical journal·2016
    Same journal

    ACUTE INTESTINAL OBSTRUCTION DUE TO INTRA-ABDOMINAL CAUSES.

    British medical journal·2014
    Same journal

    A CASE OF HAEMATIDROSIS.

    British medical journal·2014
    Same journal

    Incidence of ulcer in haematemesis.

    British medical journal·2011
    Same journal

    Pituitary hypothyroidism with impaired renal function.

    British medical journal·2011
    Same journal

    The fenestration operation for otosclerosis.

    British medical journal·2011
    See all related articles

    Area of Science:

    • Pediatric Endocrinology
    • Neuro-ophthalmology
    • Developmental Biology

    Background:

    • Optic nerve hypoplasia (ONH) is a congenital condition affecting vision.
    • Absent septum pellucidum (ASP) is a brain malformation often associated with endocrine issues.
    • Syndromic presentations of ONH and ASP require further characterization.

    Purpose of the Study:

    • To describe a specific syndrome involving ONH, ASP, and endocrinopathies.
    • To emphasize the importance of early diagnosis and monitoring in affected children.
    • To highlight potential therapeutic interventions for growth abnormalities.

    Main Methods:

    • Case series describing four pediatric patients.
    • Clinical evaluation including ophthalmological and endocrinological assessments.

    Related Experiment Videos

  • Review of patient growth parameters and response to treatment.

    • Main Results:

    • All four patients presented with optic nerve hypoplasia and absent septum pellucidum.
    • Varied endocrinological dysfunctions were observed in the affected children.
    • Short stature was a notable feature in some patients.

    Conclusions:

    • A recognizable syndrome combining ONH, ASP, and endocrine dysfunction exists in children.
    • Prompt recognition and longitudinal growth monitoring are essential.
    • Availability of human growth hormone offers a potential treatment for short stature in this population.