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

Spondyloperipheral dysplasia

G Sorge1, M Ruggieri, R S Lachman

  • 1Clinica Pediatrica, Università di Catania, Italy.

American Journal of Medical Genetics
|November 6, 1995
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

Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report.

Global medical genetics·2025
Same author

Clinical and biological predictors of Cladribine effectiveness in Multiple Sclerosis: A real-world, single Centre study considering a two-year interval from year-2 dosing.

Journal of the neurological sciences·2024
Same author

Plasma pentraxin 3 in idiopathic inflammatory myopathies: a possible new biomarker of disease activity.

Clinical and experimental immunology·2023
Same author

Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review.

Medicine·2018
Same author

Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies.

Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale·2016
Same author

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.

Clinical genetics·2016
Same journal

Defects of blastogenesis.

American journal of medical genetics·2002
Same journal

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002
Same journal

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002
Same journal

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002
Same journal

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

American journal of medical genetics·2002
Same journal

Three cases of tetrasomy 9p.

American journal of medical genetics·2002
See all related articles

Spondyloperipheral dysplasia is a rare skeletal disorder causing vertebral and limb abnormalities. This autosomal dominant condition shows significant clinical variability.

Area of Science:

  • Genetics
  • Skeletal Dysplasias
  • Rare Diseases

Background:

  • Skeletal dysplasias encompass a heterogeneous group of genetic disorders affecting bone and cartilage development.
  • Spondyloperipheral dysplasia is a rare chondroosseous dysplasia characterized by specific skeletal abnormalities.

Observation:

  • The presented case exhibits platyspondyly and end-plate indentations of vertebral bodies.
  • Associated features include brachydactyly, a "pugilistic" facial appearance, sensorineural deafness, and mental retardation.

Findings:

  • The patient's phenotype aligns with the diagnostic criteria for spondyloperipheral dysplasia.
  • The inheritance pattern suggests an autosomal dominant mode of transmission for this condition.

Implications:

Related Experiment Videos

  • This case highlights the clinical variability within spondyloperipheral dysplasia.
  • Further research is needed to understand the genetic basis and phenotypic spectrum of this rare disorder.