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CASE REPORT
Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene
  1. Hamdan Alrajhi1,
  2. Jubara Alallah2,3,
  3. Aiman Shawli2,4,
  4. Khalid Alghamdi1 and
  5. Fahad Hakami5
  1. 1 College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia
  2. 2 Department of Pediatrics, King Abdulaziz Medical City, Jeddah, Saudi Arabia
  3. 3 Department of Neonatology, King Abdulaziz Medical City, Jeddah, Saudi Arabia
  4. 4 Departments of Clinical Genetics, King Abdulaziz Medical City, Jeddah, Saudi Arabia
  5. 5 Molecular Medicine Section, Department of Pathology, (KAMC-WR), Jeddah, Saudi Arabia
  1. Correspondence to Dr Hamdan Alrajhi, dr.hamdan.ra{at}hotmail.com

Abstract

Microcephalic osteodysplastic primordial dwarfism syndrome II (MOPDII) is microcephalic primordial dwarfism and is a very rare form of disproportionate short stature. This disorder shares common features with other forms of microcephalic primordial dwarfism, including severe prenatal and postnatal growth retardation with marked microcephaly. However, it includes characteristic skeletal dysplasia, abnormal dentition and increased risk for cerebrovascular diseases. Recent reports added more features, including café-au-lait lesions, cutis marmorata, astigmatism, Moyamoya disease, insulin resistance, obesity, abnormal skin pigmentation and acanthosis nigricans around the neck. Clearly, the more MOPDII reports that are produced, the more information will be added to the spectrum of MOPDII features that can improve our understanding of this disorder. In this paper, we reported a new case of MOPDII with more severe clinical features, earlier onset of common features, in addition to a homozygous novel variant in the PCNT gene.

  • paediatrics
  • genetics
  • neonatal health
  • congenital disorders
  • developmental paediatrocs
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Footnotes

  • Contributors All authors certify that they have participated sufficiently in the work to take public responsibility for the content, including participation in the concept, design, analysis, writing or revision of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Parental/guardian consent obtained.

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