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

The Aase-Smith syndrome.

M A Patton, A Sharma, R M Winter

    Clinical Genetics
    |December 1, 1985
    PubMed
    Summary
    This summary is machine-generated.

    A rare genetic syndrome characterized by hand abnormalities, joint contractures, cleft palate, and Dandy-Walker malformation is described in a mother and daughter. This report details a second documented instance of this distinct congenital disorder.

    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

    CD28 ligation prevents bacterial toxin-induced septic shock in mice by inducing IL-10 expression.

    Journal of immunology (Baltimore, Md. : 1950)·1997
    Same author

    MR imaging of tubercular spinal arachnoiditis.

    AJR. American journal of roentgenology·1997
    Same author

    Interactions between transvenous nonthoracotomy cardioverter defibrillator systems and permanent transvenous endocardial pacemakers.

    Pacing and clinical electrophysiology : PACE·1997
    Same author

    Tracheal ligation: the dark side of in utero congenital diaphragmatic hernia treatment.

    Journal of pediatric surgery·1997
    Same author

    Role of the carboxyl-terminal region of Porphyromonas gingivalis fimbrillin in binding to salivary proteins.

    Infection and immunity·1997
    Same author

    Phenethyl isothiocyanate modulates clastogenicity of mitomycin C and cyclophosphamide in vivo.

    Mutation research·1996
    Same journal

    Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

    Clinical genetics·2026
    Same journal

    Phenotypic Characterization of Five Children With PACS1-NDD: Longitudinal Insights Into Development, Behavior, and Brain.

    Clinical genetics·2026
    Same journal

    A Second Report of a Missense Variant in AMMECR1 Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review.

    Clinical genetics·2026
    Same journal

    From Pathogenicity to Mechanism: A Variant Interpretation Framework for Monogenic Epilepsy.

    Clinical genetics·2026
    Same journal

    Biallelic Variants in ATP1A4 Are Associated with Oligoasthenoteratozoospermia and Male Infertility.

    Clinical genetics·2026
    Same journal

    Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy.

    Clinical genetics·2026
    See all related articles

    Area of Science:

    • Medical Genetics
    • Developmental Biology
    • Clinical Dysmorphology

    Background:

    • The Aase & Smith syndrome, first described in 1968, is a rare congenital disorder.
    • It is characterized by a specific constellation of anomalies including hand abnormalities, joint contractures, cleft palate, and Dandy-Walker malformation.

    Observation:

    • This study presents a familial case involving a mother and her daughter exhibiting the Aase & Smith syndrome.
    • This represents the second documented occurrence of this syndrome.

    Findings:

    • The report confirms the recurrence of the Aase & Smith syndrome within a family.
    • Detailed clinical observations of the affected mother and daughter are provided.

    Implications:

    Related Experiment Videos

  • This finding suggests a potential genetic basis or predisposition for the Aase & Smith syndrome.
  • Further research into the genetic etiology and inheritance patterns of this syndrome is warranted.
  • Increased awareness among clinicians may aid in earlier diagnosis of affected individuals and families.