PubMed · 5551608
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S Boloczko, M Rzaczyński. 1971. [Compression set for long bone epiphyses].. https://pubmed.ncbi.nlm.nih.gov/5551608/
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We describe a case of semi-lethal chondrodysplasia with skeletal manifestations, detectable at birth, typical of the round femoral inferior epiphysis dysplasia (RFIED) or 'Glasgow' variant. Immunological abnormalities and Hirschsprung disease, so far described only in cartilage hair hypoplasia (CHH), were documented during the first months of life in our patient. These findings confirm the hypothesis that RFIED is a form of CHH with early infantile onset.
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The Thurstan-Holland fragment, a small triangular piece of metaphyseal bone, may provide the only roentgenographic evidence of a prior epiphyseal separation that subsequently resolved.