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

A new lethal neonatal short limb dwarfism

L I al Gazali1, K Devadas, C M Hall

  • 1Department of Paediatrics, FMHS, UAE University, Al Ain.

Clinical Dysmorphology
|April 1, 1996
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

Crisis as opportunity for spiritual growth.

Journal of religion and health·2013
Same author

Cosmology and therapy.

Journal of religion and health·2013
Same author

Calpain-mediated proteolysis of fast transported proteins in nerve terminals of rabbit retinal ganglion cells.

Neurochemistry international·2010
Same author

Aleuria lectin remains bound to its receptors during rapid axonal transport in retinal ganglion cells.

Neurochemistry international·2010
Same author

Likelihood of persistent GH deficiency into late adolescence: relationship to the presence of an ectopic or normally sited posterior pituitary gland.

Clinical endocrinology·2009
Same author

Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.

Journal of medical genetics·2008

This study describes a new lethal short limb dwarfism in an infant. The condition appears to be inherited in an autosomal recessive pattern.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Pediatric Endocrinology

Background:

  • Short limb dwarfism encompasses a group of skeletal dysplasias characterized by disproportionately short limbs.
  • Genetic factors are the primary cause of most dwarfism types, with varying inheritance patterns.

Observation:

  • A neonate presented with severe micromelia and other features suggestive of a novel skeletal dysplasia.
  • The infant exhibited characteristics consistent with lethal short limb dwarfism.

Findings:

  • The observed condition represents a potentially new form of lethal short limb dwarfism.
  • Preliminary analysis suggests an autosomal recessive mode of inheritance for this condition.

Implications:

Related Experiment Videos

  • Identification of this new dwarfism type expands the phenotypic spectrum of skeletal dysplasias.
  • Understanding the genetic basis and inheritance pattern is crucial for genetic counseling and future research into skeletal development.