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

Hydrocephalus in asphyxiating thoracic dystrophy.

M Singh1, D Ray, V K Paul

  • 1Department of Pediatrics, All India Institute of Medical Sciences, New Delhi.

American Journal of Medical Genetics
|February 1, 1988
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

A simple radioassay for detection of antithyroglobulin autoantibodies.

The Indian journal of medical research·1992
Same author

An immunoradiometric assay for measurement of serum thyroglobulin.

The Indian journal of medical research·1992
Same author

Modification of radiosensitivity by the so-called tissue recovery stimulator. I. Radiosensitizing effects of solcoseryl.

Journal of radiation research·1992
Same author

Postnatal laminar development of cholinergic receptors, protein kinase C and dihydropyridine-sensitive calcium antagonist binding in rat visual cortex. Effect of visual deprivation.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience·1992
Same author

Cerebral glucose metabolic rates after 30 and 45 minute acquisitions: a comparative study.

Journal of nuclear medicine : official publication, Society of Nuclear Medicine·1992
Same author

Resolution of dihydroxyeicosanoates and of dihydroxyeicosatrienoates by chiral phase chromatography.

Analytical biochemistry·1992

Asphyxiating thoracic dystrophy, a rare skeletal disorder, was observed with mild congenital hydrocephalus in four male infants. This study is the first to document hydrocephalus in patients with this condition.

Area of Science:

  • Medical Genetics
  • Pediatric Neurology
  • Skeletal Dysplasias

Background:

  • Asphyxiating thoracic dystrophy (ATD) is a severe skeletal dysplasia characterized by a narrow chest and limb abnormalities.
  • Congenital hydrocephalus is a condition marked by excessive cerebrospinal fluid in the brain's ventricles.
  • The co-occurrence of ATD and hydrocephalus has not been previously documented.

Observation:

  • Four male infants diagnosed with asphyxiating thoracic dystrophy were studied.
  • Two of the affected infants were siblings, suggesting a potential genetic link.
  • Three of the four patients presented with postaxial polydactyly, a common feature in some skeletal dysplasias.

Findings:

  • All four patients exhibited mild congenital hydrocephalus.

Related Experiment Videos

  • Cerebral computed tomography (CT) scans revealed moderate dilatation of the lateral ventricles in every case.
  • This represents the initial reported instance of hydrocephalus associated with asphyxiating thoracic dystrophy.

    • Implications:

    • The findings suggest a possible syndromic association between asphyxiating thoracic dystrophy and congenital hydrocephalus.
    • Further research is warranted to elucidate the underlying genetic or developmental mechanisms connecting these two conditions.
    • This documentation may aid in refining diagnostic criteria and understanding the phenotypic spectrum of ATD.