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Related Concept Videos

Cellular Adaptation IV: Dysplasia and Metaplasia01:24

Cellular Adaptation IV: Dysplasia and Metaplasia

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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Related Experiment Video

Updated: Jul 5, 2026

A Rat Tibial Growth Plate Injury Model to Characterize Repair Mechanisms and Evaluate Growth Plate Regeneration Strategies
06:53

A Rat Tibial Growth Plate Injury Model to Characterize Repair Mechanisms and Evaluate Growth Plate Regeneration Strategies

Published on: July 4, 2017

Pyle metaphyseal dysplasia.

Neerja Gupta1, Madhulika Kabra, Chandan J Das

  • 1Genetic Subdivision, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India.

Indian Pediatrics
|May 3, 2008
PubMed
Summary

Pyle type metaphyseal dysplasia is a rare genetic disorder affecting bone development. This case highlights key radiological signs in a 12-year-old boy, aiding in diagnosis of this uncommon condition.

Area of Science:

  • Orthopedics
  • Genetics
  • Radiology

Background:

  • Pyle type metaphyseal dysplasia is a rare autosomal recessive skeletal disorder.
  • It is characterized by characteristic abnormalities in the bone metaphyses.

Observation:

  • A 12-year-old boy presented with mild facial dysmorphism, genu valgum, and leg muscle wasting.
  • Clinical examination revealed signs suggestive of a skeletal dysplasia.

Findings:

  • Skeletal radiology confirmed the diagnosis with the classic Erlenmeyer flask sign.
  • The Erlenmeyer flask sign was noted at the distal femoral and proximal tibial metaphyses.
  • Platyspondyly (flattened vertebral bodies) was also observed on radiological imaging.

Implications:

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Last Updated: Jul 5, 2026

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  • Accurate diagnosis of Pyle type metaphyseal dysplasia is crucial for appropriate management.
  • Radiological findings like the Erlenmeyer flask sign are key diagnostic indicators.
  • Further research into the genetic basis and long-term outcomes of Pyle disease is warranted.