SynthesisAmerican journal of medical genetics. Part C, Seminars in medical genetics2018
Syndromes associated with holoprosencephaly.
Synthesis in American journal of medical genetics. Part C, Seminars in medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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.
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
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 72 citations in OpenAlex.
- Molecular testing in holoprosencephaly.American journal of medical genetics. Part C, Seminars in medical genetics · 2018Pooled it
- Phenotypic discordance in semilobar holoprosencephaly: a case report of total arhinia and median clefting linked to gestational diabetes.Annals of medicine and surgery (2012) · 2026Article
- Recognition of Patau Syndrome (Trisomy 13) Based on Clinical Features in a Resource-Limited Setting: A Case Report.Clinical case reports · 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
- Prenatal imaging diagnosis of iniencephaly apertus associated with heterotaxy syndrome, alobar holoprosencephaly and myelomeningocele: a case report.AJOG global reports · 2025Article
- Prdm15 acts upstream of Wnt4 signaling in anterior neural development ofFrontiers in cell and developmental biology · 2024Article
- Septo-optic dysplasia PLUS syndrome in a 23 years old patient: A case report.Radiology case reports · 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
- Fetal Cyclopia, Proboscis, Holoprosencephaly, and Polydactyly: A Case Report With Review of Literature.Cureus · 2023Article
- Cyclopia in a newborn rhesus macaque born to a dam infected with SIV and receiving antiretroviral therapy during pregnancy.Current trends in immunology · 2023Article
- Holoprosencephaly in Patau Syndrome.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2023Article
- NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.American journal of medical genetics. Part A · 2022Article
- Article
- Mutations in phospholipase C eta-1 (Journal of medical genetics · 2022Article
- CNS Malformations in the Newborn.Maternal health, neonatology and perinatology · 2022Review
- Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes.International journal of molecular sciences · 2021Review
- Cyclopia, a newborn with a single eye, a rare but lethal congenital anomaly: A case report.International journal of surgery case reports · 2021Article
- The Role of Sonic Hedgehog in Human Holoprosencephaly and Short-Rib Polydactyly Syndromes.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Holoprosencephaly (HPE) is partial or complete failure of the forebrain to divide into hemispheres and can be an isolated finding or associated with a syndrome. Most cases of HPE are associated with a syndrome and roughly 40%-60% of fetuses with HPE have trisomy 13 which is the most common etiology of HPE. Other syndromes associated with HPE include additional aneuploidies like trisomy 18 and single gene disorders such as Smith-Lemli-Opitz syndrome. There are a number of syndromes such as pseudotrisomy 13 which do not have a known molecular etiology; therefore, this review has two parts: syndromes with a molecular diagnosis and syndromes where the etiology is yet to be found. As most HPE is syndromic, this review provides a comprehensive list and description of syndromes associated with HPE that may be used as a differential diagnosis and starting point for evaluating individuals with HPE.
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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.