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[Thanatophoric Dwarfism (author's transl)].

L Reinken, H Frisch, I Höpfel

    Padiatrie Und Padologie
    |January 1, 1978
    PubMed
    Summary
    This summary is machine-generated.

    This study details four cases of thanatophoric dwarfism, a rare skeletal dysplasia. Thanatophoric dwarfism, first described in 1967, occurs in approximately 1 in 6393 newborns and has normal chromosome patterns.

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    Area of Science:

    • Medical Genetics
    • Pediatrics
    • Skeletal Dysplasias

    Background:

    • Thanatophoric dwarfism (TD) is a severe, lethal form of skeletal dysplasia.
    • First described in 1967, TD is characterized by extreme micromelia and a narrow thorax.
    • The condition presents a significant diagnostic challenge due to its rarity and phenotypic overlap with other skeletal disorders.

    Observation:

    • This report presents four cases of thanatophoric dwarfism diagnosed between 1974 and 1977.
    • These cases contribute to the growing body of literature on TD, with 44 reported cases by the time of this study.
    • Detailed clinical and radiological findings for each case are presented.

    Findings:

    • Thanatophoric dwarfism occurs with an estimated frequency of 1 in 6393 newborns.

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  • Karyotype analysis in affected individuals consistently reveals normal chromosome patterns.
  • Distinctive features allow differentiation of TD from other skeletal dysplasia syndromes.

    • Implications:

    • Understanding the phenotypic spectrum and diagnostic criteria for thanatophoric dwarfism is crucial for accurate diagnosis.
    • Further research is needed to elucidate the genetic underpinnings of TD, despite normal karyotypes.
    • Accurate identification aids in genetic counseling and management of affected families.