ReviewCurrent opinion in pediatrics2010
Holoprosencephaly: recommendations for diagnosis and management.
Review in Current opinion in pediatrics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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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.
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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
29 citing papers in PubMed, 64 citations in OpenAlex.
- Prenatal Diagnosis of Alobar Holoprosencephaly With Cyclopia and Proboscis: A Case Report.Cureus · 2026Article
- A case of early diagnosis of alobar holoprosencephaly from Pakistan: importance of prompt prenatal imaging.Journal of medical case reports · 2026Article
- Phenotypic Spectrum and Chromosomal Discordance in Alobar Holoprosencephaly: A Comparative Case Series from a Tertiary Referral Center.International medical case reports journal · 2026Article
- Clinical and genetic basis of congenital gonadotropin deficiency.Human reproduction open · 2026Article
- Centriolar protein PIBF1 is required for craniofacial and forebrain development.Developmental biology · 2025Article
- Recent advances in the diagnosis and molecular pathogenesis of holoprosencephaly: a review.Journal of applied genetics · 2025Article
- Role of PROP1 in Postnatal Pituitary Gland Maturation.Endocrinology · 2025Article
- Congenital external hydrocephalus: A rare presentation of lobar holoprosencephaly in a neonate.Radiology case reports · 2025Article
- Lobar holoprosencephaly with associated meningocele: A rare case report of a 25-year-old patient with multiple seizures.Radiology case reports · 2025Article
- Efficacy of tolvaptan in an infant with syndrome of inappropriate antidiuretic hormone secretion associated with holoprosencephaly: A case report.World journal of clinical cases · 2023Article
- Semilobar Holoprosencephaly Caused by a Novel and De NovoBalkan journal of medical genetics : BJMG · 2023Article
- Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management.Children (Basel, Switzerland) · 2023Review
- Antenatal and Postnatal Diagnosis of Semilobar Holoprosencephaly: Two Case Reports.Global pediatric health · 2023Article
- Fetal Brain Development: Regulating Processes and Related Malformations.Life (Basel, Switzerland) · 2022Review
- Developmental Genes and Malformations in the Hypothalamus.Frontiers in neuroanatomy · 2020Review
- Novel heterozygous variants in KMT2D associated with holoprosencephaly.Clinical genetics · 2019Article
- Fetal brain MRI findings and neonatal outcome of common diagnosis at a tertiary care center.Journal of perinatology : official journal of the California Perinatal Association · 2019Article
- Dispatching Sonic Hedgehog: Molecular Mechanisms Controlling Deployment.Trends in cell biology · 2019Review
- Article
- Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Endocrine reviews · 2016Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
purpose of reviewThis review presents recent advances in our understanding and clinical management of holoprosencephaly (HPE). HPE is the most common developmental disorder of the human forebrain and involves incomplete or failed separation of the cerebral hemispheres. The epidemiology, clinical features, causes, diagnostic approach, management, and outcomes of HPE are discussed. RECENT
findingsChromosomal abnormalities account for the most commonly identified cause of HPE. However, there are often unidentifiable causes in patients with nonsyndromic, nonchromosomal forms of HPE. The prevalence of HPE may be underestimated given that patients with mild forms often are not diagnosed until they present with severely affected children. Pregestational maternal diabetes mellitus is the most recognized risk factor for HPE, as supported by recent large-scale epidemiological studies. Genetic studies using microarray-based comparative genomic hybridization technology have resulted in better characterization of important HPE loci. SUMMARY: HPE encompasses a wide spectrum of forebrain and midline defects, with an accompanying wide spectrum of clinical manifestations. A coordinated, multidisciplinary care team is required for clinical management of this complex disorder. Further research will enable us to better understand the pathogenesis and causes of HPE, and thus to improve the genetic counseling of patients and their families.
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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.