ArticleJournal of medical genetics2020
'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.
Article in Journal of medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 10 citations in OpenAlex.
- Delayed diagnosis of skeletal dysplasia in a girl with cartilage-hair hypoplasia.JCEM case reports · 2026Article
- Cartilage-hair hypoplasia: A comprehensive review.Journal of human immunity · 2025Review
- Shorter birth length and decreased T-cell production and function predict severe infections in children with non-severe combined immunodeficiency cartilage-hair hypoplasia.The journal of allergy and clinical immunology. Global · 2024Article
- Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (Annals of laboratory medicine · 2021Article
- RMRP, RMST, FTX and IPW: novel potential long non-coding RNAs in medullary thyroid cancer.Orphanet journal of rare diseases · 2021Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMetaphyseal dysplasia without hypotrichosis (MDWH) is a rare form of chondrodysplasia with no extraskeletal manifestations. MDWH is caused by
objectiveWe diagnosed severe agranulocytosis in a subject with
methodsWe collected clinical and laboratory data for a cohort of 80 patients with
resultsIn our cohort, we identified 10 patients with skeletal but no extraskeletal features during preschool age. Eight of these patients developed malignancy or clinically significant immunodeficiency during follow-up. Two of them died during chemotherapy for malignancy. At the time of the first extraskeletal manifestation, patients were school aged, 20, 43 and 50 years old. Laboratory signs of immunodeficiency (impaired lymphocyte proliferative responses) were demonstrated in four patients before the onset of symptoms. The patient outside this cohort, who had
conclusionsMDWH can present with severe late-onset extraskeletal manifestations and thus should be reclassified and managed as CHH.
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Registered trials
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