{
  "abstract": "Microcephalic osteodysplastic primordial dwarfism type II (MOPDII; MIM #210720) is a rare autosomal recessive disorder characterized by severe growth failure and microcephaly, frequently complicated by central nervous system (CNS) anomalies and early-onset cerebrovascular disease. This study aimed to define the neurologic, radiologic, molecular, and oral-dental features of a MOPDII cohort, with particular emphasis on cerebrovascular involvement, and to assess genotype-phenotype correlations. Molecular diagnosis was established using next-generation sequencing, including targeted gene panel sequencing (n = 11) and exome sequencing (n = 1), or Sanger sequencing (n = 11). Clinical data, neuroimaging and vascular findings, systematic oral-dental examinations, and molecular results were retrospectively reviewed. Twenty-three patients from 18 unrelated consanguineous families were included. Seventeen distinct homozygous PCNT variants were identified, including 5 splice-site, 5 frameshift, and 7 nonsense variants; of these, 12 were novel. Structural CNS anomalies were common, with the thin corpus callosum being the most frequent finding, observed in 14 of 17 patients (82%) who underwent cranial imaging. Moyamoya disease was identified in 12 patients (70.5%), of whom 7 experienced chronic or acute cerebral infarctions and/or intracranial hemorrhage. Three patients with moyamoya disease died of complications related to vascular involvement. The 2 oldest patients developed severe peripheral arterial and coronary artery occlusions, leading to spontaneous limb amputation and acute myocardial infarction. Oral-dental evaluation, performed in 14 patients (61%), revealed microdontia, malformed teeth, and root shortening. No consistent genotype-phenotype correlation was identified for cerebrovascular or orodental manifestations. MOPDII is strongly associated with moyamoya disease and represents a major cause of neurologic morbidity and mortality. Early and longitudinal neuroimaging, including brain MRI and angiographic assessment, should be integral to patient management. Oral-dental abnormalities are common and merit routine evaluation.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Pediatric Genetics, Diyarbakir Children's Hospital, Türkiye.",
    "Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Türkiye.",
    "Department of Pediatric Dentistry, Dicle University Faculty of Dentistry, Diyarbakır, Türkiye.",
    "Department of Oral and Maxillofacial Radiology, Hacettepe University Faculty of Dentistry Ankara, Türkiye.",
    "Department of Pediatric Dentistry, Hacettepe University Faculty of Dentistry, Ankara, Türkiye.",
    "Department of Pediatric Dentistry, Yozgat Bozok University Faculty of Dentistry, Türkiye.",
    "Department of Pediatric Neurology, Diyarbakir Children's Hospital, Türkiye.",
    "Department of Pediatric Genetics, Marmara University Faculty of Medicine, Istanbul, Türkiye.",
    "Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Türkiye.",
    "Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Türkiye.",
    "Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Türkiye; and.",
    "Department of Pediatric Genetics, Eastern Mediterranean University Medical School, Famagusta, Türkiye."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 19,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Akçahan Akalın",
      "orcid": "0000-0001-9770-284X"
    },
    {
      "affs": [
        2
      ],
      "name": "İsmet Rezani Toptancı",
      "orcid": "0000-0003-2298-9617"
    },
    {
      "affs": [
        3
      ],
      "name": "Nagihan Koç",
      "orcid": "0000-0002-3339-7783"
    },
    {
      "affs": [
        4
      ],
      "name": "Cansu Özşin Özler",
      "orcid": "0000-0002-9366-3991"
    },
    {
      "affs": [
        5
      ],
      "name": "Fatma Dilara Baysan",
      "orcid": "0000-0002-1303-079X"
    },
    {
      "affs": [
        6
      ],
      "name": "Veysel Öz",
      "orcid": "0000-0002-7619-9365"
    },
    {
      "affs": [
        1
      ],
      "name": "Gizem Ürel-Demir",
      "orcid": "0000-0002-9928-3236"
    },
    {
      "affs": [
        7
      ],
      "name": "Funda Kökali",
      "orcid": "0000-0003-3431-2777"
    },
    {
      "affs": [
        7
      ],
      "name": "Kadir Işık",
      "orcid": "0000-0001-8753-5208"
    },
    {
      "affs": [
        8
      ],
      "name": "Enise Avcı Durmuşalioğlu",
      "orcid": "0000-0002-0582-8881"
    },
    {
      "affs": [
        8
      ],
      "name": "Esra Isik",
      "orcid": "0000-0003-0657-2408"
    },
    {
      "affs": [
        9
      ],
      "name": "Rahsan Gocmen",
      "orcid": "0000-0002-0223-9336"
    },
    {
      "affs": [
        8
      ],
      "name": "Tahir Atik",
      "orcid": "0000-0002-1142-3872"
    },
    {
      "affs": [
        10
      ],
      "name": "Göknur Haliloğlu",
      "orcid": "0000-0003-1813-275X"
    },
    {
      "affs": [
        10
      ],
      "name": "Dilek Yalnizoglu",
      "orcid": "0000-0001-9294-4305"
    },
    {
      "affs": [
        4
      ],
      "name": "Meryem Uzamış Tekçiçek",
      "orcid": "0000-0003-1179-7708"
    },
    {
      "affs": [
        1
      ],
      "name": "Gülen Eda Utine",
      "orcid": "0000-0001-6577-5542"
    },
    {
      "affs": [
        7,
        11
      ],
      "name": "Nursel H Elcioglu",
      "orcid": "0000-0003-0051-6720"
    },
    {
      "affs": [
        1
      ],
      "name": "Pelin Ozlem Simsek Kiper",
      "orcid": "0000-0001-7244-7766"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/cm945evvkz3v2.bib",
  "cited_by": 0,
  "doi": "10.1212/nxg.0000000000200446",
  "fulltext_url": "https://europepmc.org/articles/PMC13716492",
  "id": "cm945evvkz3v2",
  "issns": [
    "2376-7839"
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  "landing_url": "https://europepmc.org/article/MED/42953897",
  "language": "eng",
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
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      "heading",
      "14"
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      "heading",
      "91"
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      "heading",
      "Research Article"
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      "openalex",
      "1311|Genomics and Rare Diseases"
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  "pdf_url": "https://europepmc.org/articles/PMC13716492?pdf=render",
  "pmcid": "PMC13716492",
  "pmid": "42953897",
  "published": "2026-10-27",
  "publisher": "American Academy of Neurology",
  "ris": "https://research.draconitic.com/paper/cm945evvkz3v2.ris",
  "sources": [
    {
      "first_seen": "2026-10-31T00:20:40Z",
      "native_id": "MED:42953897",
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      "url": "https://europepmc.org/article/MED/42953897"
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    {
      "first_seen": "2026-11-01T12:23:25Z",
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  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|Genomics and Rare Diseases",
      "subfield": "genetics-genomics"
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  ],
  "title": "Comprehensive Clinical, Neuroradiologic, and Oral Health of 23 Individuals With MOPDII: Molecular Spectrum and Phenotypic Features.",
  "title_text": "Comprehensive Clinical, Neuroradiologic, and Oral Health of 23 Individuals With MOPDII: Molecular Spectrum and Phenotypic Features.",
  "type": "peer-reviewed",
  "updated_at": "2026-11-01T12:23:25Z",
  "url": "https://research.draconitic.com/paper/cm945evvkz3v2",
  "venue": "Neurology. Genetics",
  "versions": []
}