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Fibrochondrogenesis.

M L Kulkarni1, Prakash S Matadh1, S P Praveen Prabhu2

  • 1Department of Pediatrics, J.J.M. Medical College, Davangere, 577 004, Karnataka, India.

Indian Journal of Pediatrics
|April 8, 2017
PubMed
Summary
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Fibrochondrogenesis, a rare lethal skeletal dysplasia, is detailed in this case report. The study highlights its genetic inheritance, physical and radiological traits, and pathological findings in a child from a consanguineous union.

Area of Science:

  • Medical Genetics
  • Skeletal Dysplasias
  • Developmental Biology

Background:

  • Fibrochondrogenesis is an extremely rare, lethal skeletal dysplasia characterized by short limbs.
  • Only fifteen cases have been documented since its initial description in 1978.
  • Understanding its genetic basis and phenotypic spectrum is crucial for diagnosis and counseling.

Purpose of the Study:

  • To report a novel case of fibrochondrogenesis in an infant born to consanguineous parents.
  • To comprehensively describe the ultrasonographic, clinical, radiological, and pathological features of this rare disorder.
  • To contribute to the existing literature on fibrochondrogenesis, aiding in understanding its incidence and inheritance patterns.

Main Methods:

  • Case presentation of a child with suspected fibrochondrogenesis.
Keywords:
Autosomal recessiveFibrochondrogenesisLethal skeletal dysplasia

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  • Detailed clinical examination and anthropometric measurements.
  • Radiological imaging (X-rays) to assess skeletal abnormalities.
  • Pathological examination of affected tissues.
  • Review of existing literature on fibrochondrogenesis.

    • Main Results:

    • The case presented with characteristic physical features of short-limb skeletal dysplasia.
    • Radiological findings were consistent with previously reported cases of fibrochondrogenesis.
    • Ultrasonographic evaluation revealed key prenatal indicators.
    • Pathological analysis confirmed the diagnosis.
    • The child was born to a consanguineously married couple, suggesting a possible autosomal recessive inheritance pattern.

    Conclusions:

    • This case adds to the limited number of reported fibrochondrogenesis instances.
    • Consanguinity in parents may increase the risk or incidence of such rare genetic disorders.
    • Detailed characterization of clinical, radiological, and pathological findings is essential for accurate diagnosis and understanding of fibrochondrogenesis.