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Related Experiment Videos

Microcephalic osteodysplastic dysplasia

J H Hersh1, M R Joyce, J Spranger

  • 1Department of Pediatrics, University of Louisville, Kentucky.

American Journal of Medical Genetics
|July 1, 1994
PubMed
Summary
This summary is machine-generated.

This study describes a unique skeletal dysplasia in four patients. The condition involves microcephaly, distinct facial features, and growth issues, presenting a rare genetic disorder.

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Area of Science:

  • Genetics
  • Pediatrics
  • Radiology

Background:

  • Two new patients exhibit a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly.
  • These individuals have normal intelligence despite significant physical and radiographic abnormalities.
  • The presentation is similar to two previously reported males, suggesting a potential unique genetic syndrome.