ReviewCurrent osteoporosis reports2017
Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.
Review in Current osteoporosis reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 34 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
34 citing papers in PubMed, 61 citations in OpenAlex.
- [Microcephalic osteodysplastic primary dwarfism type II with hypergonadotropic hypogonadism in a 16-year-old patient].Problemy endokrinologii · 2026Article
- Challenging Genetic Diagnosis in Siblings With Primordial Dwarfism, Muscle Wasting, Osteogenesis Imperfecta, Craniofacial Dysmorphism, and Ectodermal Anomalies.The Yale journal of biology and medicine · 2026Article
- A MOPD II-associated Pericentrin variant disrupts PACT domain dimerization and pericentriolar material recruitment.bioRxiv : the preprint server for biology · 2026Article
- Article
- Severe Insulin Resistance Syndromes: Clinical Spectrum and Management.International journal of molecular sciences · 2025Review
- Specific mitotic events drive left-right organizer development.Development (Cambridge, England) · 2025Article
- Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.Medicina (Kaunas, Lithuania) · 2024Article
- Novel mutation in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II).Metabolic brain disease · 2024Article
- E3 ligases: a ubiquitous link between DNA repair, DNA replication and human disease.The Biochemical journal · 2024Review
- Small size, big problems: insights and difficulties in prenatal diagnosis of fetal microcephaly.Frontiers in neuroscience · 2024Review
- Pericentrin deficiency in smooth muscle cells augments atherosclerosis through HSF1-driven cholesterol biosynthesis and PERK activation.JCI insight · 2023Article
- Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.International journal of molecular sciences · 2023Article
- Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in theFrontiers in endocrinology · 2023Article
- Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report.Journal of pediatric genetics · 2022Article
- Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys.BMC medical genomics · 2022Article
- Role of Medical IoT-Based Bone Age Determination in the Diagnosis and Clinical Treatment of Dwarfism Disease Monitoring.Contrast media & molecular imaging · 2022Article
- A 10-Year-Old Boy with Short Stature and Microcephaly, Diagnosed with Moyamoya Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II).The American journal of case reports · 2021Article
- Multifaceted roles of centrosomes in development, health, and disease.Journal of molecular cell biology · 2021Review
- Article
- Diagnostic difficulties and possibilities of NF1-like syndromes in childhood.BMC pediatrics · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
purpose of the reviewThis review will provide an overview of the microcephalic primordial dwarfism (MPD) class of disorders and provide the reader comprehensive clinical review with suggested care guidelines for patients with microcephalic osteodysplastic primordial dwarfism, type II (MOPDII). RECENT
findingsOver the last 15 years, significant strides have been made in the diagnosis, natural history, and management of MOPDII. MOPDII is the most common and well described form of MPD. The classic features of the MPD group are severe pre- and postnatal growth retardation, with marked microcephaly. In addition to these features, individuals with MOPDII have characteristic facies, skeletal dysplasia, abnormal dentition, and an increased risk for cerebrovascular disease and insulin resistance. Biallelic loss-of-function mutations in the pericentrin gene cause MOPDII, which is inherited in an autosomal recessive manner.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.