Related Experiment Videos

Congenital cervical instability in a patient with camptomelic dysplasia

Gregory P Lekovic1, Harold L Rekate, Curtis A Dickman

  • 1Division of Neurological Surgery, Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, Phoenix, AZ 85003, USA.

Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|March 24, 2006
PubMed

Insights

Camptomelic dysplasia (CD) can cause severe cervical instability due to incomplete ossification. This complication can lead to spinal cord injury, highlighting the poor prognosis for affected infants.

Area of Science:

  • Genetics
  • Orthopedics
  • Pediatrics

Background:

  • Camptomelic dysplasia (CD) is a rare, autosomal dominant skeletal disorder.
  • Characterized by bent bones, tracheobronchial narrowing, and sex reversal.
  • Often associated with early mortality, though long-term survival is possible.

Observation:

  • A case of CD presented with incomplete ossification of cervical vertebral pedicles.
  • This resulted in congenital cervical instability and kyphosis.
  • The patient underwent closed reduction and received a custom cervical orthosis.

Findings:

  • The patient developed a complete spinal cord injury at the kyphotic level.
  • This case highlights the poor prognosis of neonatal cervical spinal instability.
  • Incomplete ossification of cervical pedicles is a critical complication in CD.

Implications:

  • Early identification and management of cervical instability are crucial in CD patients.
  • Neonatal cervical instability poses a significant risk for neurological damage.
  • Further research into managing skeletal complications in CD is warranted.
Abstract

Related Concept Videos

Immunoglobulin-like Cell Adhesion Molecules01:31

Immunoglobulin-like Cell Adhesion Molecules

Immunoglobulin-like cell adhesion molecules or Ig-CAMs are a versatile group of cell surface glycoproteins belonging to the immunoglobulin protein superfamily. Ig-CAMs possess the characteristic immunoglobulin protein domains and other domains such as the fibronectin type III domain. The Ig domains are glycosylated to varying degrees in different Ig-CAMs.
Ig-CAMs exhibit either homophilic binding (to other Ig-CAMs) or heterophilic binding (to other ligands such as integrins). While most Ig-CAMs...
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...