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

[Seckel dwarfism based on a personal case].

H Howanietz1, H Frisch, I Jedlicka-Köhler

  • 1Universitäts-Kinderklinik Wien.

Klinische Padiatrie
|March 1, 1989
PubMed
Summary
This summary is machine-generated.

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

High-precision measurement of the <i>W</i> boson mass with the CDF II detector.

Science (New York, N.Y.)·2022
Same author

Search for the Exotic Meson X(5568) with the Collider Detector at Fermilab.

Physical review letters·2018
Same author

Combined Forward-Backward Asymmetry Measurements in Top-Antitop Quark Production at the Tevatron.

Physical review letters·2018
Same author

Tevatron Combination of Single-Top-Quark Cross Sections and Determination of the Magnitude of the Cabibbo-Kobayashi-Maskawa Matrix Element V_{tb}.

Physical review letters·2015
Same author

Search for Resonances Decaying to Top and Bottom Quarks with the CDF Experiment.

Physical review letters·2015
Same author

Tevatron constraints on models of the Higgs boson with exotic spin and parity using decays to bottom-antibottom quark pairs.

Physical review letters·2015
Same journal

[Renale Outcomes bei Kindern mit neurogener Blase: Anatomische und urodynamische Determinanten jenseits des Uropathogentyps].

Klinische Padiatrie·2026
Same journal

[Impact of the COVID-19 pandemic on voiding diary quality and its relevance for the treatment of functional urinary incontinence in children].

Klinische Padiatrie·2026
Same journal

Guidance for the Diagnosis and Treatment of Rare Embryonal and Sarcomatous Brain Tumors-a Report from the Central Nervous System-International Registry for Rare Embryonal and Sarcomatous Tumors German Society of Pediatric Oncology and Hematology Study Group.

Klinische Padiatrie·2026
Same journal

Klinische Padiatrie·2026
Same journal

Association of Fat-free Mass Index and Body Mass Index on Pulmonary Function Tests in Children with Rheumatological Disease-associated Interstitial Lung Disease.

Klinische Padiatrie·2026
Same journal

Synchronous Differentiated Thyroid Carcinoma and Nonthyroid Malignancies in Pediatric Patients: A Registry-based Case Series.

Klinische Padiatrie·2026
See all related articles

This report details a case of Seckel syndrome, a rare genetic disorder. The patient presented with congenital heart defects and endocrine abnormalities, highlighting the syndrome

Area of Science:

  • Genetics
  • Pediatrics
  • Cardiology

Background:

  • Seckel syndrome is a rare autosomal recessive disorder characterized by primordial dwarfism and distinct facial features.
  • Patients typically exhibit microcephaly, a beaked nose, and proportionate dwarfism.

Observation:

  • A pediatric patient with Seckel syndrome presented with additional complex congenital heart anomalies including an atrial septal defect (ASD II), ventricular septal defect (VSD), and patent ductus arteriosus (PDA).
  • Endocrine assessment indicated diminished growth hormone (GH) stimulation.
  • Cranial computed tomography (CT) revealed enlarged cerebral ventricles.

Findings:

  • The case expands the known clinical spectrum of Seckel syndrome by documenting significant congenital heart failure.
  • The findings suggest a potential link between Seckel syndrome and endocrine dysfunction, specifically impaired growth hormone release.

Related Experiment Videos

  • Cerebral ventricular enlargement was observed, warranting further investigation into potential neurological involvement.

    • Implications:

    • This case underscores the importance of comprehensive cardiac and endocrine evaluations in patients diagnosed with Seckel syndrome.
    • Further research is needed to elucidate the genetic and molecular mechanisms underlying the diverse manifestations of Seckel syndrome.
    • Understanding these associations can improve diagnostic accuracy and therapeutic strategies for affected individuals.