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Somatic development in cleidocranial dysplasia.

B L Jensen1

  • 1Royal Dental College, Copenhagen, Denmark.

American Journal of Medical Genetics
|January 1, 1990
PubMed
Summary
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Cleidocranial dysplasia (CCD) causes generalized skeletal dysplasia, affecting height and bone growth, particularly in females. This study reveals significant growth retardation and skeletal maturity delays in CCD patients.

Area of Science:

  • Genetics and Developmental Biology
  • Orthopedics
  • Pediatric Endocrinology

Background:

  • Cleidocranial dysplasia (CCD) is a rare genetic disorder affecting bone development.
  • Previous research has focused on craniofacial anomalies, but general somatic development requires further investigation.

Purpose of the Study:

  • To describe general somatic development in patients with cleidocranial dysplasia (CCD).
  • To analyze the longitudinal growth patterns of individuals diagnosed with CCD.

Main Methods:

  • Study included 17 patients (7 males, 10 females, aged 5-46 years) with CCD.
  • Data collection involved family history, anthropometric measurements, and hand/forearm radiographs.
  • Longitudinal growth was assessed in 11 patients over time.

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Main Results:

  • Significant decreases in height and radius length were observed, more pronounced in females.
  • Longitudinal data indicated growth retardation and delayed skeletal maturity during childhood.
  • Metacarpophalangeal pattern profile analysis revealed significant variation in bone lengths due to anomalies like extra epiphyses.

Conclusions:

  • Cleidocranial dysplasia (CCD) is characterized by generalized skeletal dysplasia, impacting overall growth.
  • The findings highlight the systemic nature of CCD beyond craniofacial manifestations.
  • This study provides valuable insights into the growth patterns and skeletal anomalies in CCD patients.