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Article

[Microcephalic osteodysplastic primary dwarfism type II with hypergonadotropic hypogonadism in a 16-year-old patient].

Problemy endokrinologii - 22 Jul 2026

Platonov V V, Noskova E D, Skorodok Yu L, Plotnikova E V, Suspitsin E N, Yakovleva T V, Tsoraeva F Z, Polanskaya M A, Jamiyeva Sh A

Abstract excerpt

Microcephalic osteodysplastic primary dwarfism type II (MOPDII) is a form of primordial nanism characterized by extreme short stature, microcephaly, specific phenotype, maxillofacial dysmorphisms, skeletal dysplasia, disorders of carbohydrate metabolism, and neurovascular abnormalities. This article describes a patient with a Seckel syndrome phenotype presenting with left internal carotid artery aneurysms with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42545326
DOI: 10.14341/probl13554
PMCID: PMC13474364

Genes

PCNT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

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[Microcephalic osteodysplastic primary dwarfism type II with hypergonadotropic hypogonadism in a 16-year-old patient].PMID 42545326Read ↗

Novel mutation in Patients with Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II)Semantic proximity Read ↗

Novel mutation in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II).Semantic proximity Read ↗

[Microcephalic osteodysplastic primordial dwarfism type II (MOPD II): clinical case].Semantic proximity Read ↗

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.Semantic proximity Read ↗

Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms.Semantic proximity Read ↗

[Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism].Semantic proximity Read ↗

Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.Semantic proximity Read ↗

Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys.Semantic proximity Read ↗

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical ReviewSemantic proximity Read ↗

Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype.Semantic proximity Read ↗

Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.Semantic proximity Read ↗

Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II.Semantic proximity Read ↗

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