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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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Cleidocranial dysplasia

Ramakant Dixit1, Kalpana Dixit, A R Paramez

  • 1Department of Pulmonary Medicine, JLN Medical College, Ajmer and Samarpan Child Clinic, Taragarh Link Road, Ajmer, India.

Lung India : Official Organ of Indian Chest Society
|October 9, 2010
PubMed

Insights

Cleidocranial dysplasia is a rare genetic disorder affecting bone development. This case study highlights a seven-year-old girl with typical symptoms, emphasizing the condition's characteristic skeletal and dental anomalies.

Area of Science:

  • Genetics
  • Pediatrics
  • Skeletal Dysplasias

Background:

  • Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder.
  • It involves generalized bone dysplasia with characteristic features.

Purpose of the Study:

  • To present a case of a pediatric patient with cleidocranial dysplasia.
  • To illustrate the classical clinical manifestations of the condition.

Main Methods:

  • Case report of a seven-year-old female.
  • Clinical examination focusing on skeletal and dental features.

Main Results:

  • The patient presented with classical features of cleidocranial dysplasia.
  • Key findings included delayed cranial suture closure, hypoplastic clavicles, short stature, and dental abnormalities.

Conclusions:

  • Cleidocranial dysplasia presents with a recognizable pattern of skeletal and dental anomalies.
  • Early recognition is crucial for managing associated complications in affected children.

Keywords:
Clavicle hypoplasiacleidocranial dysplasiagenetic disorder

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